A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1966



Internal ID15541249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:23268567..23281220hg38UCSC Ensembl
Outerchr1:23595060..23607713hg19UCSC Ensembl
Outerchr1:23467647..23480300hg18UCSC Ensembl
Outerchr1:23340366..23353019hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg387473
hg197473
hg187473
hg177473
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6631
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)nssv1966
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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