A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3729184



Internal ID18680779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110079504..110226092hg38UCSC Ensembl
Innerchr2:110837081..110983669hg19UCSC Ensembl
Innerchr2:110194370..110340958hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38146589
hg19146589
hg18146589
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003882
Supporting Variants
Samples
Known GenesLINC00116, MALL, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3729184
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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