A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205



Internal ID15547791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231800374..231837876hg38UCSC Ensembl
Outerchr2:232665084..232702586hg19UCSC Ensembl
Outerchr2:232373328..232410830hg18UCSC Ensembl
Outerchr2:232490589..232528091hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg388560
hg198560
hg188560
hg178560
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6911, nssv2318, nssv5852, nssv10271
SamplesNA12156, NA18956, NA18555, NA19129
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)nsv3205
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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