A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005449



Internal ID18747980
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 StatusM
Merged Variants
Supporting Variantsnssv3730772
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)nsv1005449
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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