A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6911



Internal ID15536952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231800374..231814290hg38UCSC Ensembl
Outerchr2:232665084..232679000hg19UCSC Ensembl
Outerchr2:232373328..232387244hg18UCSC Ensembl
Outerchr2:232490589..232504505hg17UCSC 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 StatusS
Merged Variantsnsv3205
Supporting Variants
SamplesNA12156
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)nssv6911
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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