A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002611



Internal ID18745143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54490885..54525702hg38UCSC Ensembl
Innerchr2:54718022..54752839hg19UCSC Ensembl
Innerchr2:54571526..54606343hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3834818
hg1934818
hg1834818
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3576645, nssv3576644
Samples
Known GenesSPTBN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002611
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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