A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2040



Internal ID15199917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:36147099..36265379hg38UCSC Ensembl
Outerchr17:34474480..34618533hg19UCSC Ensembl
Outerchr17:31498593..31642646hg18UCSC Ensembl
Outerchr17:31498593..31642646hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38118281
hg19144054
hg18144054
hg17144054
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5654, nssv9325, nssv10972
SamplesNA15510, NA18517, NA19129
Known GenesCCL3L1, CCL3L3, CCL4L1, CCL4L2, TBC1D3B, TBC1D3H
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)nsv2040
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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