nsv3318436

Organism: Homo sapiens

Study:nstd157 (Frenkel et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:13
Validation:Not tested
Clinical Assertions: No
Region Size:179,597

Publication(s):Frenkel et al. 2019

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 1366 SVs from 95 studies. See in: genome view

Remapped(Score: Perfect):136,670,241-136,849,837

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3318436	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	136,670,241	136,849,837
nsv3318436	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	137,682,484	137,862,080

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14468319	copy number loss	M2138	SNP array	SNP genotyping analysis	27
nssv14468500	copy number loss	M2159	SNP array	SNP genotyping analysis	9
nssv14468945	copy number loss	M2191	SNP array	SNP genotyping analysis	24
nssv14469407	copy number loss	M2233	SNP array	SNP genotyping analysis	9
nssv14469575	copy number loss	M2249	SNP array	SNP genotyping analysis	21
nssv14470189	copy number loss	M2319	SNP array	SNP genotyping analysis	20
nssv14470457	copy number loss	M2341	SNP array	SNP genotyping analysis	23
nssv14470551	copy number loss	M2356	SNP array	SNP genotyping analysis	15
nssv14470609	copy number loss	M2361	SNP array	SNP genotyping analysis	25
nssv14471297	copy number loss	M2430	SNP array	SNP genotyping analysis	16
nssv14471307	copy number loss	M2431	SNP array	SNP genotyping analysis	12
nssv14471346	copy number loss	M2433	SNP array	SNP genotyping analysis	21
nssv14471472	copy number loss	M2454	SNP array	SNP genotyping analysis	17

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14468319	Remapped	Perfect	NC_000008.11:g.(?_ 136670241)_(136849 837_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	136,670,241	136,849,837
nssv14468500	Remapped	Perfect	NC_000008.11:g.(?_ 136670241)_(136849 837_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	136,670,241	136,849,837
nssv14468945	Remapped	Perfect	NC_000008.11:g.(?_ 136670241)_(136849 837_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	136,670,241	136,849,837
nssv14469407	Remapped	Perfect	NC_000008.11:g.(?_ 136670241)_(136849 837_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	136,670,241	136,849,837
nssv14469575	Remapped	Perfect	NC_000008.11:g.(?_ 136670241)_(136849 837_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	136,670,241	136,849,837
nssv14470189	Remapped	Perfect	NC_000008.11:g.(?_ 136670241)_(136849 837_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	136,670,241	136,849,837
nssv14470457	Remapped	Perfect	NC_000008.11:g.(?_ 136670241)_(136849 837_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	136,670,241	136,849,837
nssv14470551	Remapped	Perfect	NC_000008.11:g.(?_ 136670241)_(136849 837_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	136,670,241	136,849,837
nssv14470609	Remapped	Perfect	NC_000008.11:g.(?_ 136670241)_(136849 837_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	136,670,241	136,849,837
nssv14471297	Remapped	Perfect	NC_000008.11:g.(?_ 136670241)_(136849 837_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	136,670,241	136,849,837
nssv14471307	Remapped	Perfect	NC_000008.11:g.(?_ 136670241)_(136849 837_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	136,670,241	136,849,837
nssv14471346	Remapped	Perfect	NC_000008.11:g.(?_ 136670241)_(136849 837_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	136,670,241	136,849,837
nssv14471472	Remapped	Perfect	NC_000008.11:g.(?_ 136670241)_(136849 837_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	136,670,241	136,849,837
nssv14468319	Submitted genomic		NC_000008.10:g.(?_ 137682484)_(137862 080_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	137,682,484	137,862,080
nssv14468500	Submitted genomic		NC_000008.10:g.(?_ 137682484)_(137862 080_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	137,682,484	137,862,080
nssv14468945	Submitted genomic		NC_000008.10:g.(?_ 137682484)_(137862 080_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	137,682,484	137,862,080
nssv14469407	Submitted genomic		NC_000008.10:g.(?_ 137682484)_(137862 080_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	137,682,484	137,862,080
nssv14469575	Submitted genomic		NC_000008.10:g.(?_ 137682484)_(137862 080_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	137,682,484	137,862,080
nssv14470189	Submitted genomic		NC_000008.10:g.(?_ 137682484)_(137862 080_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	137,682,484	137,862,080
nssv14470457	Submitted genomic		NC_000008.10:g.(?_ 137682484)_(137862 080_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	137,682,484	137,862,080
nssv14470551	Submitted genomic		NC_000008.10:g.(?_ 137682484)_(137862 080_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	137,682,484	137,862,080
nssv14470609	Submitted genomic		NC_000008.10:g.(?_ 137682484)_(137862 080_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	137,682,484	137,862,080
nssv14471297	Submitted genomic		NC_000008.10:g.(?_ 137682484)_(137862 080_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	137,682,484	137,862,080
nssv14471307	Submitted genomic		NC_000008.10:g.(?_ 137682484)_(137862 080_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	137,682,484	137,862,080
nssv14471346	Submitted genomic		NC_000008.10:g.(?_ 137682484)_(137862 080_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	137,682,484	137,862,080
nssv14471472	Submitted genomic		NC_000008.10:g.(?_ 137682484)_(137862 080_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	137,682,484	137,862,080

dbVar

Database of genomic structural variation

nsv3318436

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant