A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3729200



Internal ID18680795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110103221..110226092hg38UCSC Ensembl
Innerchr2:110860798..110983669hg19UCSC Ensembl
Innerchr2:110218087..110340958hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38122872
hg19122872
hg18122872
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009377
Supporting Variants
Samples
Known GenesLINC00116, MALL, NPHP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3729200
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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