A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009773



Internal ID18752304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195549241..195730018hg38UCSC Ensembl
Innerchr3:195276060..195456889hg19UCSC Ensembl
Innerchr3:196757349..196942560hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38180778
hg19180830
hg18185212
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5014n100
Supporting Variantsnssv3611390
Samples
Known GenesAPOD, MIR570, MUC20, SDHAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009773
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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