A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3719953



Internal ID19018234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18452066..18593977hg38UCSC Ensembl
Innerchr17:18355380..18497291hg19UCSC Ensembl
Innerchr17:18296105..18438016hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38141912
hg19141912
hg18141912
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060436
Supporting Variants
Samples
Known GenesCCDC144B, FAM106A, LGALS9C, USP32P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3719953
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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