A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2627



Internal ID15547190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:19285718..19319147hg38UCSC Ensembl
Outerchr2:19485479..19518908hg19UCSC Ensembl
Outerchr2:19348960..19382389hg18UCSC Ensembl
Outerchr2:19407107..19440536hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg386002
hg196002
hg186002
hg176002
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7467
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)nsv2627
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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