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dbVar

Database of genomic structural variation

nsv5554148

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:83,730

Description:complex variant
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: 475 SVs from 49 studies. See in: genome view

Submitted genomic30,476,920-30,560,649

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5554148	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	30,476,920	30,560,649
nsv5554148	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	30,495,037	30,578,766

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17736403	sequence alteration	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17736403	Submitted genomic		GRCh38 (hg38)		NC_000023.11	ChrX	30,476,920	30,560,649
nssv17736403	Remapped	Perfect	GRCh37.p13	First Pass	NC_000023.10	ChrX	30,495,037	30,578,766

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)
nssv17736403	<0.001	2	6404

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