A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582682



Internal ID16023405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110114088..110200752hg38UCSC Ensembl
Innerchr2:110871665..110958329hg19UCSC Ensembl
Innerchr2:110228954..110315618hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3886665
hg1986665
hg1886665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7004n54
Supporting Variantsnssv916068
Samples
Known GenesMALL, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582682
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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