A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9836



Internal ID15539903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:45504716..45552672hg38UCSC Ensembl
Outerchr12:45898499..45946455hg19UCSC Ensembl
Outerchr12:44184766..44232722hg18UCSC Ensembl
Outerchr12:44184766..44232722hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3847957
hg1947957
hg1847957
hg1747957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv691
Supporting Variants
SamplesNA18507
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)nssv9836
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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