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dbVar

Database of genomic structural variation

nsv4865618

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:46,788

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: 263 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):49,234,178-49,280,967

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4865618	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	49,234,179 (-1, +1)	49,280,966 (-1, +1)
nsv4865618	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	47,850,716 (-1, +1)	47,897,503 (-1, +1)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16392571	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16392571	Remapped	Perfect	NC_000020.11:g.(49 234178_49234180)_( 49280965_49280967) dup	GRCh38.p12	First Pass	NC_000020.11	Chr20	49,234,179 (-1, +1)	49,280,966 (-1, +1)
nssv16392571	Submitted genomic		NC_000020.10:g.(47 850715_47850717)_( 47897502_47897504) dup	GRCh37 (hg19)		NC_000020.10	Chr20	47,850,716 (-1, +1)	47,897,503 (-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)
nssv16392571	<0.001	1	16834

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