A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3730772



Internal ID18682367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54711496..54902366hg38UCSC Ensembl
Innerchr2:54938633..55129503hg19UCSC Ensembl
Innerchr2:54792137..54983007hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38190871
hg19190871
hg18190871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1005449
Supporting Variants
Samples
Known GenesEML6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3730772
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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