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dbVar

Database of genomic structural variation

nsv4578217

Organism: Homo sapiens

Study:nstd166 (gnomAD Structural Variants)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh37

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

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: 52 SVs from 4 studies. See in: genome view

Remapped(Score: Perfect):47,467,059-47,467,059

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4578217	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	47,467,059	47,467,059
nsv4578217	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000018.9	Chr18	44,993,430	44,993,430

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16020345	sva insertion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16020345	Remapped	Perfect	NC_000018.10:g.474 67059_47467060ins1 240	GRCh38.p12	First Pass	NC_000018.10	Chr18	47,467,059	47,467,059
nssv16020345	Submitted genomic		NC_000018.9:g.4499 3430_44993431ins12 40	GRCh37.p13		NC_000018.9	Chr18	44,993,430	44,993,430

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)
nssv16020345	9.2e-005	2	21694

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