A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5675



Internal ID15197069
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 StatusS
Merged Variantsnsv2145
Supporting Variants
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)nssv5675
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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