A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602



Internal ID15204201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:9456707..9595898hg38UCSC Ensembl
Outerchr12:9609303..9748494hg19UCSC Ensembl
Outerchr12:9500570..9639761hg18UCSC Ensembl
Outerchr12:9500570..9639761hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38139192
hg19139192
hg18139192
hg17139192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6490, nssv9830, nssv10850, nssv5400, nssv4010, nssv9277
SamplesNA18517, NA18507, NA18956, NA19129, NA12156, NA12878
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)nsv602
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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