A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10135



Internal ID15195977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81238081..81259631hg38UCSC Ensembl
Outerchr17:79211881..79233431hg19UCSC Ensembl
Outerchr17:76826476..76848026hg18UCSC Ensembl
Outerchr17:76826476..76848026hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg386200
hg196200
hg186200
hg176200
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2161
Supporting Variants
SamplesNA18956
Known GenesC17orf89, ENTHD2, SLC38A10
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)nssv10135
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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