A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1088



Internal ID15544725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58322392..58351116hg38UCSC Ensembl
Outerchr12:58716175..58744899hg19UCSC Ensembl
Outerchr12:57002442..57031166hg18UCSC Ensembl
Outerchr12:57002442..57031166hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3828725
hg1928725
hg1828725
hg1728725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv730
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)nssv1088
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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