A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2694



Internal ID15547257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:39305124..39340237hg38UCSC Ensembl
Outerchr2:39532265..39567378hg19UCSC Ensembl
Outerchr2:39385769..39420882hg18UCSC Ensembl
Outerchr2:39443916..39479029hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg385864
hg195864
hg185864
hg175864
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1489
SamplesNA19240
Known GenesMAP4K3
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)nsv2694
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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