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dbVar

Database of genomic structural variation

nsv4959103

Organism: Homo sapiens

Study:nstd200 (Abel et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:2,593

Publication(s):Abel et al. 2020

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: 362 SVs from 47 studies. See in: genome view

Submitted genomic11,634,799-11,637,397

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4959103	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	11,634,799	11,637,391 (-6, +6)
nsv4959103	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	11,492,308	11,494,900 (-6, +6)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16499836	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16499836	Submitted genomic		NC_000008.11:g.116 34799_(11637385_11 637397)del	GRCh38 (hg38)		NC_000008.11	Chr8	11,634,799	11,637,391 (-6, +6)
nssv16499836	Remapped	Perfect	NC_000008.10:g.114 92308_(11494894_11 494906)del	GRCh37.p13	First Pass	NC_000008.10	Chr8	11,492,308	11,494,900 (-6, +6)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16499836	0.056	1636	29246

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