A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9032



Internal ID15188146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:54440978..54460659hg38UCSC Ensembl
Outerchr12:54834762..54854443hg19UCSC Ensembl
Outerchr12:53121029..53140710hg18UCSC Ensembl
Outerchr12:53121029..53140710hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3819682
hg1919682
hg1819682
hg1719682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv717
Supporting Variants
SamplesNA12156
Known GenesGTSF1
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)nssv9032
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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