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dbVar

Database of genomic structural variation

nsv5005696

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:8,365

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: 156 SVs from 41 studies. See in: genome view

Submitted genomic56,618,007-56,626,449

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5005696	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	56,618,054 (-47)	56,626,418 (-3, +31)
nsv5005696	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	56,651,966 (-47)	56,660,330 (-3, +31)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16573666	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16573666	Submitted genomic		NC_000016.10:g.(56 618007_?)_(5662641 5_56626449)dup	GRCh38 (hg38)		NC_000016.10	Chr16	56,618,054 (-47)	56,626,418 (-3, +31)
nssv16573666	Remapped	Perfect	NC_000016.9:g.(566 51919_?)_(56660327 _56660361)dup	GRCh37.p13	First Pass	NC_000016.9	Chr16	56,651,966 (-47)	56,660,330 (-3, +31)

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)
nssv16573666	<0.001	1	29246

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