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dbVar

Database of genomic structural variation

nsv6504687

Organism: Homo sapiens

Study:nstd223 (Sedlazeck 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:1,035

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: 145 SVs from 23 studies. See in: genome view

Submitted genomic103,723,873-103,724,907

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6504687	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	103,723,873	103,724,907
nsv6504687	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	104,190,210	104,191,244

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18015939	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18015939	Submitted genomic		NC_000014.9:g.1037 23873_103724907del	GRCh38 (hg38)		NC_000014.9	Chr14	103,723,873	103,724,907
nssv18015939	Remapped	Perfect	NC_000014.8:g.1041 90210_104191244del	GRCh37.p13	First Pass	NC_000014.8	Chr14	104,190,210	104,191,244

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18015939	<0.001	1	36764

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