A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1082



Internal ID15198078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:46632078..46646067hg38UCSC Ensembl
Outerchr12:47025861..47039850hg19UCSC Ensembl
Outerchr12:45312128..45326117hg18UCSC Ensembl
Outerchr12:45312128..45326117hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3813990
hg1913990
hg1813990
hg1713990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv692
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)nssv1082
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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