A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5400



Internal ID15197424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:9478704..9595898hg38UCSC Ensembl
Outerchr12:9631300..9748494hg19UCSC Ensembl
Outerchr12:9522567..9639761hg18UCSC Ensembl
Outerchr12:9522567..9639761hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38117195
hg19117195
hg18117195
hg17117195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv602
Supporting Variants
SamplesNA19129
Known GenesKLRB1
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)nssv5400
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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