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dbVar

Database of genomic structural variation

nsv6212425

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:110

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: 101 SVs from 32 studies. See in: genome view

Submitted genomic49,461,441-49,461,550

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6212425	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	49,461,441	49,461,550
nsv6212425	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	49,964,698	49,964,807

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17945359	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17945359	Submitted genomic		NC_000019.10:g.494 61441_49461550del	GRCh38 (hg38)		NC_000019.10	Chr19	49,461,441	49,461,550
nssv17945359	Remapped	Perfect	NC_000019.9:g.4996 4698_49964807del	GRCh37.p13	First Pass	NC_000019.9	Chr19	49,964,698	49,964,807

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)
nssv17945359	0.001	2	1996

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