A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2144



Internal ID15200021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76142266..76168235hg38UCSC Ensembl
Outerchr17:74138347..74164316hg19UCSC Ensembl
Outerchr17:71649942..71675911hg18UCSC Ensembl
Outerchr17:71649942..71675911hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg386776
hg196776
hg186776
hg176776
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1384
SamplesNA19240
Known GenesRNF157, RNF157-AS1
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)nsv2144
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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