A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011368



Internal ID18753902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169423740..170042296hg38UCSC Ensembl
Innerchr2:170280250..170898806hg19UCSC Ensembl
Innerchr2:169988496..170607052hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38618557
hg19618557
hg18618557
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583029
Samples
Known GenesBBS5, CCDC173, FASTKD1, KLHL23, KLHL41, METTL5, PHOSPHO2, PHOSPHO2-KLHL23, PPIG, SSB, UBR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011368
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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