Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4387493

Organism: Homo sapiens

Study:nstd173 (Zarrei et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:50,131

Publication(s):Zarrei 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: 889 SVs from 87 studies. See in: genome view

Remapped(Score: Perfect):72,305,671-72,346,843

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4387493	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	72,305,671	72,346,843
nsv4387493	Remapped	Pass	GRCh38.p12	PATCHES	Second Pass	NW_018654707.1	Chr1\|NW_01 8654707.1	17,938	68,068
nsv4387493	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	72,771,354	72,812,526

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15681323	copy number loss	OCD1-B_JA-1325	SNP array	Genotyping	18
nssv15685998	copy number gain	OCD175-8961152	SNP array	Genotyping	17

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15681323	Remapped	Pass	NW_018654707.1:g.( ?_17938)_(68068_?) del	GRCh38.p12	Second Pass	NW_018654707.1	Chr1\|NW_01 8654707.1	17,938	68,068
nssv15685998	Remapped	Pass	NW_018654707.1:g.( ?_17938)_(68068_?) dup	GRCh38.p12	Second Pass	NW_018654707.1	Chr1\|NW_01 8654707.1	17,938	68,068
nssv15681323	Remapped	Perfect	NC_000001.11:g.(?_ 72305671)_(7234684 3_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	72,305,671	72,346,843
nssv15685998	Remapped	Perfect	NC_000001.11:g.(?_ 72305671)_(7234684 3_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	72,305,671	72,346,843
nssv15681323	Submitted genomic		NC_000001.10:g.(?_ 72771354)_(7281252 6_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	72,771,354	72,812,526
nssv15685998	Submitted genomic		NC_000001.10:g.(?_ 72771354)_(7281252 6_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	72,771,354	72,812,526

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

You are here: NCBI