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dbVar

Database of genomic structural variation

nsv6449264

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:5,207

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: 130 SVs from 32 studies. See in: genome view

Submitted genomic89,827,291-89,832,497

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6449264	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	89,827,291	89,832,497
nsv6449264	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	91,587,048	91,592,254

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17984983	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17984983	Submitted genomic		NC_000010.11:g.898 27291_89832497del	GRCh38 (hg38)		NC_000010.11	Chr10	89,827,291	89,832,497
nssv17984983	Remapped	Perfect	NC_000010.10:g.915 87048_91592254del	GRCh37.p13	First Pass	NC_000010.10	Chr10	91,587,048	91,592,254

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)
nssv17984983	<0.001	6	39148

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