A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960679



Internal ID19220577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:52406840..52409340hg38UCSC Ensembl
Outerchr17:50484200..50486700hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg382501
hg192501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128766
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960679
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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