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dbVar

Database of genomic structural variation

nsv4928443

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:588

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: 304 SVs from 38 studies. See in: genome view

Submitted genomic196,305,720-196,306,309

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4928443	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	196,305,721 (-1, +1)	196,306,308 (-1, +1)
nsv4928443	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	196,032,592 (-1, +1)	196,033,179 (-1, +1)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16450960	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16450960	Submitted genomic		NC_000003.12:g.(19 6305720_196305722) _(196306307_196306 309)del	GRCh38 (hg38)		NC_000003.12	Chr3	196,305,721 (-1, +1)	196,306,308 (-1, +1)
nssv16450960	Remapped	Perfect	NC_000003.11:g.(19 6032591_196032593) _(196033178_196033 180)del	GRCh37.p13	First Pass	NC_000003.11	Chr3	196,032,592 (-1, +1)	196,033,179 (-1, +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)
nssv16450960	<0.001	3	29232

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