A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483104



Internal ID15582217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:81506291..81705967hg38UCSC Ensembl
Innerchr2:81733415..81933091hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38199677
hg19199677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996516, nssv2996470
Samples
Known Genes
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv483104
Frequency
Sample Size39
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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