A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582683



Internal ID16023406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110114088..110224953hg38UCSC Ensembl
Innerchr2:110871665..110982530hg19UCSC Ensembl
Innerchr2:110228954..110339819hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38110866
hg19110866
hg18110866
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7004n54
Supporting Variantsnssv1150483, nssv1150484, nssv1150481, nssv1150480, nssv916069, nssv1150482, nssv1150479
SamplesHGDP00665, NINDS_37, HGDP00757, HGDP01271, HGDP00556, HGDP01027
Known GenesLINC00116, MALL, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582683
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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