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

dbVar

Database of genomic structural variation

nsv4369976

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:21,882

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: 246 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):42,214,312-42,236,193

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4369976	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	42,214,312	42,236,193
nsv4369976	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	42,441,452	42,463,333

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15626587	copy number loss	1-0055-001	SNP array	Genotyping	15
nssv15627103	copy number loss	1-0055-004	SNP array	Genotyping	19

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15626587	Remapped	Perfect	NC_000002.12:g.(?_ 42214312)_(4223619 3_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	42,214,312	42,236,193
nssv15627103	Remapped	Perfect	NC_000002.12:g.(?_ 42214312)_(4223619 3_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	42,214,312	42,236,193
nssv15626587	Submitted genomic		NC_000002.11:g.(?_ 42441452)_(4246333 3_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	42,441,452	42,463,333
nssv15627103	Submitted genomic		NC_000002.11:g.(?_ 42441452)_(4246333 3_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	42,441,452	42,463,333

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