A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005441



Internal ID18747972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:149601110..150203733hg38UCSC Ensembl
Innerchr2:150457624..151060247hg19UCSC Ensembl
Innerchr2:150165870..150768493hg18UCSC Ensembl
Cytoband2q23.2
Allele length
AssemblyAllele length
hg38602624
hg19602624
hg18602624
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582959
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005441
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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