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dbVar

Database of genomic structural variation

nsv5001517

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:2,790

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: 129 SVs from 25 studies. See in: genome view

Submitted genomic43,819,597-43,822,388

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5001517	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000015.10	Chr15	43,819,598 (-1, +1)	43,822,387 (+1)
nsv5001517	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	44,111,796 (-1, +1)	44,114,585 (+1)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16552319	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16552319	Submitted genomic		NC_000015.10:g.(43 819597_43819599)_( ?_43822388)del	GRCh38 (hg38)		NC_000015.10	Chr15	43,819,598 (-1, +1)	43,822,387 (+1)
nssv16552319	Remapped	Perfect	NC_000015.9:g.(441 11795_44111797)_(? _44114586)del	GRCh37.p13	First Pass	NC_000015.9	Chr15	44,111,796 (-1, +1)	44,114,585 (+1)

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)
nssv16552319	<0.001	1	29246

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