A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2096



Internal ID15546659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:54470404..54479727hg38UCSC Ensembl
Outerchr17:52547765..52557088hg19UCSC Ensembl
Outerchr17:49902764..49912087hg18UCSC Ensembl
Outerchr17:49902764..49912087hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg387557
hg197557
hg187557
hg177557
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1378
SamplesNA19240
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv2096
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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