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dbVar

Database of genomic structural variation

nsv4218063

Organism: Homo sapiens

Study:nstd166 (gnomAD Structural Variants)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:34,119

Publication(s):gnomAD_Structural_Variants

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: 38 SVs from 10 studies. See in: genome view

Remapped(Score: Perfect):49,615,622-49,649,740

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4218063	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	49,615,622	49,649,740
nsv4218063	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000014.8	Chr14	50,082,340	50,116,458

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv15952707	duplication	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15952707	Remapped	Perfect	NC_000014.9:g.4961 5622_49649740dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	49,615,622	49,649,740
nssv15952707	Submitted genomic		NC_000014.8:g.5008 2340_50116458dup	GRCh37.p13		NC_000014.8	Chr14	50,082,340	50,116,458

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)
nssv15952707	4.6e-005	1	21694

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