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dbVar

Database of genomic structural variation

nsv6629694

Organism: Homo sapiens

Study:nstd224 (Zarrei et al. 2023)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:28,329

Publication(s):Zarrei et al. 2023

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: 1350 SVs from 82 studies. See in: genome view

Remapped(Score: Perfect):68,535,454-68,563,782

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6629694	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	68,535,454	68,563,782
nsv6629694	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	69,401,172	69,429,500

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18308106	deletion	OSC6951	SNP array	Probe signal intensity	7
nssv18308236	duplication	OSC6809	SNP array	Probe signal intensity	8
nssv18308633	duplication	OSC6874	SNP array	Probe signal intensity	nssv18308632, nssv18307762
nssv18309636	deletion	OSC7122	SNP array	Probe signal intensity	9
nssv18312366	deletion	OSC7558	SNP array	Probe signal intensity	7
nssv18313252	deletion	OSC7731	SNP array	Probe signal intensity	6
nssv18313623	deletion	OSC7806	SNP array	Probe signal intensity	13
nssv18313635	deletion	OSC7814	SNP array	Probe signal intensity	5
nssv18319496	deletion	OSC8811	SNP array	Probe signal intensity	7

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18308106	Remapped	Perfect	NC_000004.12:g.(?_ 68535454)_(6856378 2_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,535,454	68,563,782
nssv18308236	Remapped	Perfect	NC_000004.12:g.(?_ 68535454)_(6856378 2_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,535,454	68,563,782
nssv18308633	Remapped	Perfect	NC_000004.12:g.(?_ 68535454)_(6856378 2_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,535,454	68,563,782
nssv18309636	Remapped	Perfect	NC_000004.12:g.(?_ 68535454)_(6856378 2_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,535,454	68,563,782
nssv18312366	Remapped	Perfect	NC_000004.12:g.(?_ 68535454)_(6856378 2_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,535,454	68,563,782
nssv18313252	Remapped	Perfect	NC_000004.12:g.(?_ 68535454)_(6856378 2_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,535,454	68,563,782
nssv18313623	Remapped	Perfect	NC_000004.12:g.(?_ 68535454)_(6856378 2_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,535,454	68,563,782
nssv18313635	Remapped	Perfect	NC_000004.12:g.(?_ 68535454)_(6856378 2_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,535,454	68,563,782
nssv18319496	Remapped	Perfect	NC_000004.12:g.(?_ 68535454)_(6856378 2_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,535,454	68,563,782
nssv18308106	Submitted genomic		NC_000004.11:g.(?_ 69401172)_(6942950 0_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	69,401,172	69,429,500
nssv18308236	Submitted genomic		NC_000004.11:g.(?_ 69401172)_(6942950 0_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	69,401,172	69,429,500
nssv18308633	Submitted genomic		NC_000004.11:g.(?_ 69401172)_(6942950 0_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	69,401,172	69,429,500
nssv18309636	Submitted genomic		NC_000004.11:g.(?_ 69401172)_(6942950 0_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	69,401,172	69,429,500
nssv18312366	Submitted genomic		NC_000004.11:g.(?_ 69401172)_(6942950 0_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	69,401,172	69,429,500
nssv18313252	Submitted genomic		NC_000004.11:g.(?_ 69401172)_(6942950 0_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	69,401,172	69,429,500
nssv18313623	Submitted genomic		NC_000004.11:g.(?_ 69401172)_(6942950 0_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	69,401,172	69,429,500
nssv18313635	Submitted genomic		NC_000004.11:g.(?_ 69401172)_(6942950 0_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	69,401,172	69,429,500
nssv18319496	Submitted genomic		NC_000004.11:g.(?_ 69401172)_(6942950 0_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	69,401,172	69,429,500

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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