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dbVar

Database of genomic structural variation

nsv6972452

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:34,900

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: 393 SVs from 71 studies. See in: genome view

Submitted genomic85,988,401-86,023,300

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6972452	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	85,988,401	86,023,300
nsv6972452	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	86,454,745	86,489,644

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18391500	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
nssv18391500	Submitted genomic		NC_000014.9:g.8598 8401_86023300del	GRCh38 (hg38)		NC_000014.9	Chr14	85,988,401	86,023,300
nssv18391500	Remapped	Perfect	NC_000014.8:g.8645 4745_86489644del	GRCh37.p13	First Pass	NC_000014.8	Chr14	86,454,745	86,489,644

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)
nssv18391500	0.01	2449	251062

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