A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169828



Internal ID21313639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:29419008..29421356hg38UCSC Ensembl
Outerchr2:29418334..29421729hg38UCSC Ensembl
Innerchr2:29641874..29644222hg19UCSC Ensembl
Outerchr2:29641200..29644595hg19UCSC Ensembl
Innerchr2:29495378..29497726hg18UCSC Ensembl
Outerchr2:29494704..29498099hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg383396
hg193396
hg183396
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14247462
SamplesNGO_1
Known GenesALK
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169828
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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