A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv752



Internal ID15552537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:65497861..65506188hg38UCSC Ensembl
Outerchr12:65891641..65899968hg19UCSC Ensembl
Outerchr12:64177908..64186235hg18UCSC Ensembl
Outerchr12:64177908..64186235hg17UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg388328
hg198328
hg188328
hg178328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4629
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)nsv752
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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