A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2042



Internal ID15546605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:38535731..38552684hg38UCSC Ensembl
Outerchr17:36691966..36708920hg19UCSC Ensembl
Outerchr17:33945492..33962446hg18UCSC Ensembl
Outerchr17:33945492..33962446hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg385818
hg195818
hg185818
hg175818
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4263
SamplesNA12878
Known GenesSRCIN1
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)nsv2042
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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