A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2246



Internal ID15541533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:105148885..105179330hg38UCSC Ensembl
Outerchr1:105691507..105721952hg19UCSC Ensembl
Outerchr1:105493030..105523475hg18UCSC Ensembl
Outerchr1:105403528..105433973hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg389584
hg199584
hg189584
hg179584
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2221
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)nssv2246
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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