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dbVar

Database of genomic structural variation

nsv6651887

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,146

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: 151 SVs from 35 studies. See in: genome view

Submitted genomic54,876,568-54,877,713

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6651887	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	54,876,568	54,877,713
nsv6651887	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	55,342,241	55,343,386

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18408400	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18408400	Submitted genomic		NC_000001.11:g.548 76568_54877713del	GRCh38 (hg38)		NC_000001.11	Chr1	54,876,568	54,877,713
nssv18408400	Remapped	Perfect	NC_000001.10:g.553 42241_55343386del	GRCh37.p13	First Pass	NC_000001.10	Chr1	55,342,241	55,343,386

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)
nssv18408400	0.009	2124	251132

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