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dbVar

Database of genomic structural variation

nsv6368183

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:307

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: 142 SVs from 44 studies. See in: genome view

Submitted genomic154,378,958-154,379,264

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6368183	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	154,378,958	154,379,264
nsv6368183	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	154,096,747	154,097,053

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18096153	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18096153	Submitted genomic		NC_000003.12:g.154 378958_154379264de l	GRCh38 (hg38)		NC_000003.12	Chr3	154,378,958	154,379,264
nssv18096153	Remapped	Perfect	NC_000003.11:g.154 096747_154097053de l	GRCh37.p13	First Pass	NC_000003.11	Chr3	154,096,747	154,097,053

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)
nssv18096153	0.961	32656	33994

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