A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv691



Internal ID15551866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:45502512..45552672hg38UCSC Ensembl
Outerchr12:45896295..45946455hg19UCSC Ensembl
Outerchr12:44182562..44232722hg18UCSC Ensembl
Outerchr12:44182562..44232722hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3850161
hg1950161
hg1850161
hg1750161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6502, nssv1080, nssv9836, nssv5418
SamplesNA18507, NA12156, NA19240, NA19129
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)nsv691
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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