A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004538



Internal ID18747069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195552380..195747880hg38UCSC Ensembl
Innerchr3:195279198..195474751hg19UCSC Ensembl
Innerchr3:196760487..196960422hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38195501
hg19195554
hg18199936
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5014n100
Supporting Variantsnssv3611398
Samples
Known GenesAPOD, MIR570, MUC20, MUC4, SDHAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004538
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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