A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2145



Internal ID15200022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76363105..76408339hg38UCSC Ensembl
Outerchr17:74359186..74404421hg19UCSC Ensembl
Outerchr17:71870781..71916016hg18UCSC Ensembl
Outerchr17:71870781..71916016hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3845235
hg1945236
hg1845236
hg1745236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5675
SamplesNA19129
Known GenesSPHK1, UBE2O
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)nsv2145
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer