A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064293



Internal ID19153512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18386329..18561895hg38UCSC Ensembl
Innerchr17:18289643..18465209hg19UCSC Ensembl
Innerchr17:18230368..18405934hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38175567
hg19175567
hg18175567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3110n100
Supporting Variantsnssv3560446, nssv3560445
Samples
Known GenesCCDC144B, EVPLL, FAM106A, FLJ35934, KRT16P1, LGALS9C, LOC339240, USP32P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064293
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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