A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2031



Internal ID15546594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:34743328..34786318hg38UCSC Ensembl
Outerchr17:33070347..33113337hg19UCSC Ensembl
Outerchr17:30094460..30137450hg18UCSC Ensembl
Outerchr17:30094460..30137450hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3842991
hg1942991
hg1842991
hg1742991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7324
SamplesNA12156
Known Genes
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)nsv2031
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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