A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557256



Internal ID15997979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6633394..6647074hg38UCSC Ensembl
Innerchr12:6742560..6756240hg19UCSC Ensembl
Innerchr12:6612821..6626501hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3813681
hg1913681
hg1813681
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv787252
Samples
Known GenesACRBP, LPAR5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557256
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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