A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2161



Internal ID15200038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81238081..81282084hg38UCSC Ensembl
Outerchr17:79211881..79255884hg19UCSC Ensembl
Outerchr17:76826476..76870479hg18UCSC Ensembl
Outerchr17:76826476..76870479hg17UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv5683, nssv10135
SamplesNA18956, NA19129
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)nsv2161
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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