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dbVar

Database of genomic structural variation

nsv6195525

Organism: Homo sapiens

Study:nstd214 (Naslavsky et al. 2022)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:136

Publication(s):Naslavsky et al. 2022

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: 107 SVs from 40 studies. See in: genome view

Submitted genomic94,993,231-94,993,366

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6195525	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	94,993,231	94,993,366
nsv6195525	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	95,387,007	95,387,142

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17927965	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17927965	Submitted genomic		NC_000012.12:g.949 93231_94993366del	GRCh38 (hg38)		NC_000012.12	Chr12	94,993,231	94,993,366
nssv17927965	Remapped	Perfect	NC_000012.11:g.953 87007_95387142del	GRCh37.p13	First Pass	NC_000012.11	Chr12	95,387,007	95,387,142

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)
nssv17927965	0.416	847	2036

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