A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2200



Internal ID15194797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:84043428..84078952hg38UCSC Ensembl
Outerchr1:84509111..84544635hg19UCSC Ensembl
Outerchr1:84281699..84317223hg18UCSC Ensembl
Outerchr1:84221132..84256656hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3835525
hg1935525
hg1835525
hg1735525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1732
Supporting Variants
SamplesNA18555
Known GenesPRKACB
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)nssv2200
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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