A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2074



Internal ID15199951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:49208171..49233994hg38UCSC Ensembl
Outerchr17:47285533..47311356hg19UCSC Ensembl
Outerchr17:44640532..44666355hg18UCSC Ensembl
Outerchr17:44640532..44666355hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3813616
hg1913616
hg1813616
hg1713616
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6724
SamplesNA12156
Known GenesABI3, GNGT2, PHOSPHO1
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)nsv2074
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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