A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055999



Internal ID18798530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18695458..18973671hg38UCSC Ensembl
Innerchr17:18598771..18876984hg19UCSC Ensembl
Innerchr17:18539496..18817709hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38278214
hg19278214
hg18278214
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560535
Samples
Known GenesFAM83G, FBXW10, PRPSAP2, SLC5A10, TRIM16L, TVP23B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055999
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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