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dbVar

Database of genomic structural variation

nsv4366277

Organism: Homo sapiens

Study:nstd173 (Zarrei 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:46,239

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: 1190 SVs from 78 studies. See in: genome view

Remapped(Score: Perfect):1,462,110-1,508,348

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4366277	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	1,462,110	1,508,348
nsv4366277	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	1,397,490	1,443,728

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15646344	copy number loss	2-1169-002	SNP array	Genotyping	20
nssv15646535	copy number loss	2-1268-002	SNP array	Genotyping	29
nssv15661144	copy number loss	4-0081-002	SNP array	Genotyping	21

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15646344	Remapped	Perfect	NC_000001.11:g.(?_ 1462110)_(1508348_ ?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	1,462,110	1,508,348
nssv15646535	Remapped	Perfect	NC_000001.11:g.(?_ 1462110)_(1508348_ ?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	1,462,110	1,508,348
nssv15661144	Remapped	Perfect	NC_000001.11:g.(?_ 1462110)_(1508348_ ?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	1,462,110	1,508,348
nssv15646344	Submitted genomic		NC_000001.10:g.(?_ 1397490)_(1443728_ ?)del	GRCh37 (hg19)		NC_000001.10	Chr1	1,397,490	1,443,728
nssv15646535	Submitted genomic		NC_000001.10:g.(?_ 1397490)_(1443728_ ?)del	GRCh37 (hg19)		NC_000001.10	Chr1	1,397,490	1,443,728
nssv15661144	Submitted genomic		NC_000001.10:g.(?_ 1397490)_(1443728_ ?)del	GRCh37 (hg19)		NC_000001.10	Chr1	1,397,490	1,443,728

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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