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dbVar

Database of genomic structural variation

nsv7007769

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:40

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: 332 SVs from 22 studies. See in: genome view

Submitted genomic72,844,710-72,844,749

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7007769	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000018.10	Chr18	72,844,710	72,844,749
nsv7007769	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	70,511,945	70,511,984

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18420359	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
nssv18420359	Submitted genomic		NC_000018.10:g.728 44710_72844749del	GRCh38 (hg38)		NC_000018.10	Chr18	72,844,710	72,844,749
nssv18420359	Remapped	Perfect	NC_000018.9:g.7051 1945_70511984del	GRCh37.p13	First Pass	NC_000018.9	Chr18	70,511,945	70,511,984

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)
nssv18420359	0.001	397	264668

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