A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021578



Internal ID18764112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31480756..31530960hg38UCSC Ensembl
Innerchr6:31448533..31498737hg19UCSC Ensembl
Innerchr6:31556512..31606716hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3850205
hg1950205
hg1850205
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3655902
Samples
Known GenesATP6V1G2-DDX39B, DDX39B, MCCD1, MICB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021578
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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