A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582692



Internal ID16023415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110161744..110200752hg38UCSC Ensembl
Innerchr2:110919321..110958329hg19UCSC Ensembl
Innerchr2:110276610..110315618hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3839009
hg1939009
hg1839009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv916076
Samples
Known GenesNPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582692
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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