A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059979



Internal ID19149198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18410504..18571320hg38UCSC Ensembl
Innerchr17:18313818..18474634hg19UCSC Ensembl
Innerchr17:18254543..18415359hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38160817
hg19160817
hg18160817
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3112n100
Supporting Variantsnssv3560453, nssv3560466, nssv3560455, nssv3560474, nssv3560452, nssv3560468, nssv3560471, nssv3560476, nssv3560470, nssv3560467, nssv3560457, nssv3560461, nssv3719946, nssv3560464, nssv3560478, nssv3560475, nssv3560449, nssv3560448, nssv3560456, nssv3719945, nssv3560472, nssv3560469, nssv3560463, nssv3560454, nssv3719948, nssv3560465, nssv3719947, nssv3560460, nssv3560477, nssv3560458, nssv3560451, nssv3560462, nssv3560447, nssv3560459, nssv3719944, nssv3560450, nssv3560479, nssv3560473
Samples
Known GenesCCDC144B, 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)nsv1059979
Frequency
Sample Size11257
Observed Gain31
Observed Loss7
Observed Complex0
Frequencyn/a


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