A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011175



Internal ID18753709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142186135..142357719hg38UCSC Ensembl
Innerchr3:141904977..142076561hg19UCSC Ensembl
Innerchr3:143387667..143559251hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38171585
hg19171585
hg18171585
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3606122
Samples
Known GenesGK5, XRN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011175
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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