A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556996



Internal ID15997719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1782206..1825754hg38UCSC Ensembl
Innerchr12:1891372..1934920hg19UCSC Ensembl
Innerchr12:1761633..1805181hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3843549
hg1943549
hg1843549
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786383
Samples
Known GenesADIPOR2, CACNA2D4, LRTM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556996
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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