A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1370



Internal ID15544344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:43363036..43373037hg38UCSC Ensembl
Outerchr17:41440404..41450405hg19UCSC Ensembl
Outerchr17:38795930..38805931hg18UCSC Ensembl
Outerchr17:38795930..38805931hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg389918
hg199918
hg189918
hg179918
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2058
Supporting Variants
SamplesNA19240
Known GenesLINC00910
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)nssv1370
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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