A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009930



Internal ID18752461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195552380..195737983hg38UCSC Ensembl
Innerchr3:195279198..195464854hg19UCSC Ensembl
Innerchr3:196760487..196950525hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38185604
hg19185657
hg18190039
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5015n100
Supporting Variantsnssv3611397
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)nsv1009930
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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