A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv711



Internal ID15205400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:52841102..52873555hg38UCSC Ensembl
Outerchr12:53234886..53267339hg19UCSC Ensembl
Outerchr12:51521153..51553606hg18UCSC Ensembl
Outerchr12:51521153..51553606hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg386833
hg196833
hg186833
hg176833
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5423
SamplesNA19129
Known GenesKRT78
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)nsv711
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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