A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5849



Internal ID15196858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:224852263..224858568hg38UCSC Ensembl
Outerchr2:225716980..225723285hg19UCSC Ensembl
Outerchr2:225425224..225431529hg18UCSC Ensembl
Outerchr2:225542485..225548790hg17UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg386306
hg196306
hg186306
hg176306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3185
Supporting Variants
SamplesNA19129
Known GenesDOCK10
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)nssv5849
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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