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dbVar

Database of genomic structural variation

nsv6995068

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:33

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: 122 SVs from 25 studies. See in: genome view

Submitted genomic67,397,328-67,397,360

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6995068	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	67,397,328	67,397,360
nsv6995068	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	65,393,444	65,393,476

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18413649	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
nssv18413649	Submitted genomic		NC_000017.11:g.673 97328_67397360del	GRCh38 (hg38)		NC_000017.11	Chr17	67,397,328	67,397,360
nssv18413649	Remapped	Perfect	NC_000017.10:g.653 93444_65393476del	GRCh37.p13	First Pass	NC_000017.10	Chr17	65,393,444	65,393,476

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)
nssv18413649	0.013	3105	245656

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