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dbVar

Database of genomic structural variation

nsv5552478

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:35

Publication(s):Byrska-Bishop 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: 79 SVs from 15 studies. See in: genome view

Submitted genomic56,220,173-56,220,207

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5552478	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	56,220,173	56,220,207
nsv5552478	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	56,254,085	56,254,119

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17706008	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17706008	Submitted genomic		NC_000016.10:g.562 20173_56220207ins3 19	GRCh38 (hg38)		NC_000016.10	Chr16	56,220,173	56,220,207
nssv17706008	Remapped	Perfect	NC_000016.9:g.5625 4085_56254119ins31 9	GRCh37.p13	First Pass	NC_000016.9	Chr16	56,254,085	56,254,119

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)
nssv17706008	<0.001	1	6404

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