A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556997



Internal ID15997720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1798687..1822230hg38UCSC Ensembl
Innerchr12:1907853..1931396hg19UCSC Ensembl
Innerchr12:1778114..1801657hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3823544
hg1923544
hg1823544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2273n54
Supporting Variantsnssv1175400
SamplesHGDP00546
Known GenesCACNA2D4, LRTM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556997
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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