A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv756



Internal ID15552581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:67309807..67350963hg38UCSC Ensembl
Outerchr12:67703587..67744743hg19UCSC Ensembl
Outerchr12:65989854..66031010hg18UCSC Ensembl
Outerchr12:65989854..66031010hg17UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3841157
hg1941157
hg1841157
hg1741157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9040
SamplesNA12156
Known GenesCAND1
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)nsv756
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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