A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv719



Internal ID15205488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:55852621..55897028hg38UCSC Ensembl
Outerchr12:56246405..56290812hg19UCSC Ensembl
Outerchr12:54532672..54577079hg18UCSC Ensembl
Outerchr12:54532672..54577079hg17UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3844408
hg1944408
hg1844408
hg1744408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1998
SamplesNA18555
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)nsv719
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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