A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2294



Internal ID15193869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130841107..130870834hg38UCSC Ensembl
Outerchr2:131598680..131628407hg19UCSC Ensembl
Outerchr2:131315150..131344877hg18UCSC Ensembl
Outerchr2:131432412..131462139hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3829728
hg1929728
hg1829728
hg1729728
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2925
Supporting Variants
SamplesNA18555
Known Genes
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)nssv2294
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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