A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1372



Internal ID15197656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45145375..45172616hg38UCSC Ensembl
Outerchr17:43222742..43249983hg19UCSC Ensembl
Outerchr17:40578525..40605766hg18UCSC Ensembl
Outerchr17:40578525..40605766hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3813756
hg1913756
hg1813756
hg1713756
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2062
Supporting Variants
SamplesNA19240
Known GenesHEXIM1, HEXIM2
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)nssv1372
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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