A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583038



Internal ID16023761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127641265..127718910hg38UCSC Ensembl
Innerchr2:128398840..128476484hg19UCSC Ensembl
Innerchr2:128115310..128192954hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3877646
hg1977645
hg1877645
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv919665
Samples
Known GenesGPR17, LIMS2, SFT2D3, WDR33
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583038
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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