A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053930



Internal ID19143149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57527405..57575876hg38UCSC Ensembl
Innerchr12:57921188..57969659hg19UCSC Ensembl
Innerchr12:56207455..56255926hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3848472
hg1948472
hg1848472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523605
Samples
Known GenesDCTN2, KIF5A, MBD6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053930
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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