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dbVar

Database of genomic structural variation

nsv4782012

Organism: Homo sapiens

Study:nstd200 (Abel et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:99,381

Publication(s):Abel et al. 2020

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: 611 SVs from 49 studies. See in: genome view

Remapped(Score: Good):53,359,121-53,458,503

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4782012	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	53,359,122 (-1)	53,458,502 (-1, +1)
nsv4782012	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	53,386,045 (-1)	53,485,449 (-1, +1)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16410487	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16410487	Remapped	Good	NC_000023.11:g.(53 359121_?)_(5345850 1_53458503)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	53,359,122 (-1)	53,458,502 (-1, +1)
nssv16410487	Submitted genomic		NC_000023.10:g.(53 386044_?)_(5348544 8_53485450)dup	GRCh37 (hg19)		NC_000023.10	ChrX	53,386,045 (-1)	53,485,449 (-1, +1)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16410487	<0.001	1	16834

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