A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5454



Internal ID15544071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:116633922..116653456hg38UCSC Ensembl
Outerchr12:117071727..117091261hg19UCSC Ensembl
Outerchr12:115556110..115575644hg18UCSC Ensembl
Outerchr12:115534447..115553981hg17UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg387198
hg197198
hg187198
hg177198
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv896
Supporting Variants
SamplesNA19129
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)nssv5454
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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