A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5786



Internal ID15196934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:39943517..39976210hg38UCSC Ensembl
Outerchr2:40170657..40203350hg19UCSC Ensembl
Outerchr2:40024161..40056854hg18UCSC Ensembl
Outerchr2:40082308..40115001hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg386580
hg196580
hg186580
hg176580
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2697
Supporting Variants
SamplesNA19129
Known GenesSLC8A1-AS1
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)nssv5786
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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