A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2625



Internal ID15547188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:18830290..18857902hg38UCSC Ensembl
Outerchr2:19011556..19039168hg19UCSC Ensembl
Outerchr2:18875037..18902649hg18UCSC Ensembl
Outerchr2:18933184..18960796hg17UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3813365
hg1913365
hg1813365
hg1713365
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1479
SamplesNA19240
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)nsv2625
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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