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dbVar

Database of genomic structural variation

nsv4373984

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:336,285

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: 850 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):54,564,087-54,900,371

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4373984	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	54,564,087	54,900,371
nsv4373984	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	55,138,222	55,474,506

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15636358	copy number loss	14-0044-001	SNP array	Genotyping	16
nssv15637491	copy number loss	14-0044-004	SNP array	Genotyping	24
nssv15658800	copy number loss	3-0610-000	SNP array	Genotyping	26

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15636358	Remapped	Perfect	NC_000013.11:g.(?_ 54564087)_(5490037 1_?)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	54,564,087	54,900,371
nssv15637491	Remapped	Perfect	NC_000013.11:g.(?_ 54564087)_(5490037 1_?)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	54,564,087	54,900,371
nssv15658800	Remapped	Perfect	NC_000013.11:g.(?_ 54564087)_(5490037 1_?)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	54,564,087	54,900,371
nssv15636358	Submitted genomic		NC_000013.10:g.(?_ 55138222)_(5547450 6_?)del	GRCh37 (hg19)		NC_000013.10	Chr13	55,138,222	55,474,506
nssv15637491	Submitted genomic		NC_000013.10:g.(?_ 55138222)_(5547450 6_?)del	GRCh37 (hg19)		NC_000013.10	Chr13	55,138,222	55,474,506
nssv15658800	Submitted genomic		NC_000013.10:g.(?_ 55138222)_(5547450 6_?)del	GRCh37 (hg19)		NC_000013.10	Chr13	55,138,222	55,474,506

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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