A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1452



Internal ID15546015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:20050327..20661199hg38UCSC Ensembl
Outerchr15:20255580..20866528hg19UCSC Ensembl
Outerchr15:18515594..19126542hg18UCSC Ensembl
Outerchr15:18515594..19126542hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38610873
hg19610949
hg18610949
hg17610949
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9250, nssv10923, nssv10039, nssv1233, nssv1236, nssv2096
SamplesNA12156, NA18956, NA15510, NA18555, NA19240
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3
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)nsv1452
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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