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dbVar

Database of genomic structural variation

nsv4543321

Organism: Homo sapiens

Study:nstd166 (gnomAD Structural Variants)
Variant Type: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: 41 SVs from 7 studies. See in: genome view

Remapped(Score: Perfect):48,917,810-48,917,810

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4543321	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	48,917,810	48,917,810
nsv4543321	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000008.10	Chr8	49,830,369	49,830,369

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16080659	insertion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16080659	Remapped	Perfect	NC_000008.11:g.489 17810_48917811ins8 5	GRCh38.p12	First Pass	NC_000008.11	Chr8	48,917,810	48,917,810
nssv16080659	Submitted genomic		NC_000008.10:g.498 30369_49830370ins8 5	GRCh37.p13		NC_000008.10	Chr8	49,830,369	49,830,369

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)
nssv16080659	4.6e-005	1	21694

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