A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5684



Internal ID15543742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81417377..81433829hg38UCSC Ensembl
Outerchr17:79391177..79400855hg19UCSC Ensembl
Outerchr17:77005772..77015450hg18UCSC Ensembl
Outerchr17:77005772..77015450hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg388008
hg198008
hg188008
hg178008
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2163
Supporting Variants
SamplesNA19129
Known GenesBAHCC1
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)nssv5684
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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