A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2136



Internal ID15546699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:71649363..71680565hg38UCSC Ensembl
Outerchr17:69645504..69676706hg19UCSC Ensembl
Outerchr17:67157099..67188301hg18UCSC Ensembl
Outerchr17:67157099..67188301hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3831203
hg1931203
hg1831203
hg1731203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6731
SamplesNA12156
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)nsv2136
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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