A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv983



Internal ID15544916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:26127933..26156842hg38UCSC Ensembl
Outerchr1:26454424..26483333hg19UCSC Ensembl
Outerchr1:26327011..26355920hg18UCSC Ensembl
Outerchr1:26138566..26167475hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3828910
hg1928910
hg1828910
hg1728910
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7512
Supporting Variants
SamplesNA19240
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)nssv983
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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