A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3719133



Internal ID18670728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:410957..816212hg38UCSC Ensembl
Innerchr17:260748..719452hg19UCSC Ensembl
Innerchr17:261063..666202hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38405256
hg19458705
hg18405140
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1057141
Supporting Variants
Samples
Known GenesC17orf97, DBIL5P, FAM101B, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1, VPS53
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3719133
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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