A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124762



Internal ID19268997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:83229231..83233831hg38UCSC Ensembl
Outerchr17:81177000..81181600hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg384601
hg194601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976816
SamplesKWS2
Known GenesFLJ43681
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124762
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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