A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1369



Internal ID15197659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41937488..41960616hg38UCSC Ensembl
Outerchr17:40093741..40112634hg19UCSC Ensembl
Outerchr17:37347267..37366160hg18UCSC Ensembl
Outerchr17:37347267..37366160hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg387318
hg197318
hg187318
hg177318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2056
Supporting Variants
SamplesNA19240
Known GenesTTC25
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)nssv1369
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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