A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582685



Internal ID16023408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110117552..110133856hg38UCSC Ensembl
Innerchr2:110875129..110891433hg19UCSC Ensembl
Innerchr2:110232418..110248722hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3816305
hg1916305
hg1816305
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv916072
Samples
Known GenesNPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582685
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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