A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011117



Internal ID18753651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44279994..44397393hg38UCSC Ensembl
Innerchr2:44507133..44624532hg19UCSC Ensembl
Innerchr2:44360637..44478036hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38117400
hg19117400
hg18117400
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3798n100
Supporting Variantsnssv3581589
Samples
Known GenesCAMKMT, PREPL, SLC3A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011117
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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