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dbVar

Database of genomic structural variation

nsv7007649

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:125

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: 168 SVs from 17 studies. See in: genome view

Submitted genomic54,169,317-54,169,441

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7007649	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000018.10	Chr18	54,169,317	54,169,441
nsv7007649	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	51,695,687	51,695,811

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18418717	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
nssv18418717	Submitted genomic		NC_000018.10:g.541 69317_54169441del	GRCh38 (hg38)		NC_000018.10	Chr18	54,169,317	54,169,441
nssv18418717	Remapped	Perfect	NC_000018.9:g.5169 5687_51695811del	GRCh37.p13	First Pass	NC_000018.9	Chr18	51,695,687	51,695,811

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)
nssv18418717	0.005	1105	258734

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