A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960669



Internal ID18857919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:16753186..16800486hg38UCSC Ensembl
Outerchr17:16656500..16703800hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3847301
hg1947301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128756
Supporting Variants
SamplesKWS1
Known GenesCCDC144A, FAM106CP, USP32P1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960669
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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