A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2104



Internal ID15546667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:56748385..56772665hg38UCSC Ensembl
Outerchr17:54825746..54850026hg19UCSC Ensembl
Outerchr17:52180745..52205025hg18UCSC Ensembl
Outerchr17:52180745..52205025hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg386299
hg196299
hg186299
hg176299
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4281
SamplesNA12878
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)nsv2104
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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