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dbVar

Database of genomic structural variation

nsv3318654

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:168,407

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: 1271 SVs from 84 studies. See in: genome view

Remapped(Score: Perfect):101,323,803-101,492,209

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3318654	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	101,323,803	101,492,209
nsv3318654	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	100,967,084	101,135,490

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14468369	copy number gain	M2145	SNP array	SNP genotyping analysis	16
nssv14468490	copy number gain	M2158	SNP array	SNP genotyping analysis	19
nssv14469896	copy number gain	M2281	SNP array	SNP genotyping analysis	30

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14468369	Remapped	Perfect	NC_000007.14:g.(?_ 101323803)_(101492 209_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	101,323,803	101,492,209
nssv14468490	Remapped	Perfect	NC_000007.14:g.(?_ 101323803)_(101492 209_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	101,323,803	101,492,209
nssv14469896	Remapped	Perfect	NC_000007.14:g.(?_ 101323803)_(101492 209_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	101,323,803	101,492,209
nssv14468369	Submitted genomic		NC_000007.13:g.(?_ 100967084)_(101135 490_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	100,967,084	101,135,490
nssv14468490	Submitted genomic		NC_000007.13:g.(?_ 100967084)_(101135 490_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	100,967,084	101,135,490
nssv14469896	Submitted genomic		NC_000007.13:g.(?_ 100967084)_(101135 490_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	100,967,084	101,135,490

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

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