A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6838



Internal ID15537025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:112271295..112300569hg38UCSC Ensembl
Outerchr1:112813917..112843191hg19UCSC Ensembl
Outerchr1:112615440..112644714hg18UCSC Ensembl
Outerchr1:112525959..112555233hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3829275
hg1929275
hg1829275
hg1729275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2454
Supporting Variants
SamplesNA12156
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)nssv6838
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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