A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5852



Internal ID15543540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231806279..231835138hg38UCSC Ensembl
Outerchr2:232670989..232699848hg19UCSC Ensembl
Outerchr2:232379233..232408092hg18UCSC Ensembl
Outerchr2:232496494..232525353hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg387449
hg197449
hg187449
hg177449
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205
Supporting Variants
SamplesNA19129
Known GenesCOPS7B
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)nssv5852
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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