A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003372



Internal ID18745904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:112913313..112925044hg38UCSC Ensembl
Innerchr2:113670890..113682621hg19UCSC Ensembl
Innerchr2:113387361..113399092hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3811732
hg1911732
hg1811732
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580236, nssv3580237
Samples
Known GenesIL37
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003372
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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