A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3158



Internal ID15201053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:215996019..216030223hg38UCSC Ensembl
Outerchr2:216860742..216894946hg19UCSC Ensembl
Outerchr2:216568987..216603191hg18UCSC Ensembl
Outerchr2:216686248..216720452hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg385230
hg195230
hg185230
hg175230
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7616
SamplesNA12156
Known GenesMREG
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)nsv3158
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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