A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5195



Internal ID15197403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137714781..137716564hg38UCSC Ensembl
Outerchr9:140609233..140611016hg19UCSC Ensembl
Outerchr9:139729054..139730837hg18UCSC Ensembl
Outerchr9:137885070..137886853hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3811376
hg1911376
hg1811376
hg1711376
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6773
Supporting Variants
SamplesNA19129
Known GenesEHMT1
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)nssv5195
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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