A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559004



Internal ID15999727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55704254..55777109hg38UCSC Ensembl
Innerchr12:56098038..56170893hg19UCSC Ensembl
Innerchr12:54384305..54457160hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3872856
hg1972856
hg1872856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175724
Samples1780862573_A
Known GenesBLOC1S1, BLOC1S1-RDH5, CD63, GDF11, ITGA7, RDH5, SARNP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559004
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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