A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4934



Internal ID15196210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207534031..207581340hg38UCSC Ensembl
Outerchr1:207707376..207754685hg19UCSC Ensembl
Outerchr1:205773999..205821308hg18UCSC Ensembl
Outerchr1:204095771..204143080hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3847310
hg1947310
hg1847310
hg1747310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4232
Supporting Variants
SamplesNA19129
Known GenesCR1
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)nssv4934
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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