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dbVar

Database of genomic structural variation

nsv7003884

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:50

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: 420 SVs from 43 studies. See in: genome view

Submitted genomic80,032,975-80,033,024

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7003884	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000018.10	Chr18	80,032,975	80,033,024
nsv7003884	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	77,792,975	77,793,024

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18421159	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
nssv18421159	Submitted genomic		NC_000018.10:g.800 32975_80033024del	GRCh38 (hg38)		NC_000018.10	Chr18	80,032,975	80,033,024
nssv18421159	Remapped	Perfect	NC_000018.9:g.7779 2975_77793024del	GRCh37.p13	First Pass	NC_000018.9	Chr18	77,792,975	77,793,024

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)
nssv18421159	0.353	89310	252534

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