A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242



Internal ID15201146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241214622..241247137hg38UCSC Ensembl
Outerchr2:242154037..242186552hg19UCSC Ensembl
Outerchr2:241802710..241835225hg18UCSC Ensembl
Outerchr2:241874027..241906542hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg386767
hg196767
hg186767
hg176767
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5859
SamplesNA19129
Known GenesANO7, HDLBP
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)nsv3242
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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