A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7311



Internal ID15189867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:11597199..11603692hg38UCSC Ensembl
Outerchr17:11500516..11507009hg19UCSC Ensembl
Outerchr17:11441241..11447734hg18UCSC Ensembl
Outerchr17:11441241..11447734hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg386981
hg196981
hg186981
hg176981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1982
Supporting Variants
SamplesNA12156
Known GenesDNAH9
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)nssv7311
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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