A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2647



Internal ID15547210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:25066673..25091319hg38UCSC Ensembl
Outerchr2:25289542..25314188hg19UCSC Ensembl
Outerchr2:25143046..25167692hg18UCSC Ensembl
Outerchr2:25201193..25225839hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg387592
hg197592
hg187592
hg177592
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6824
SamplesNA12156
Known GenesEFR3B
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)nsv2647
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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