A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2886243



Internal ID15427136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75632582..75690230hg38UCSC Ensembl
Innerchr2:75859708..75917356hg19UCSC Ensembl
Innerchr2:75713216..75770864hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3857649
hg1957649
hg1857649
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514988
Supporting Variants
SamplesNA19258
Known GenesGCFC2, MRPL19
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2886243
Frequency
Sample Size2366
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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