A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999975



Internal ID18812825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142100008..142367817hg38UCSC Ensembl
Innerchr3:141818850..142086659hg19UCSC Ensembl
Innerchr3:143301540..143569349hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38267810
hg19267810
hg18267810
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4912n100
Supporting Variantsnssv3606104
Samples
Known GenesGK5, TFDP2, XRN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999975
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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