A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv339



Internal ID15547994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:61204211..61251984hg38UCSC Ensembl
Outerchr11:60971683..61019456hg19UCSC Ensembl
Outerchr11:60728259..60776032hg18UCSC Ensembl
Outerchr11:60728259..60776032hg17UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3847774
hg1947774
hg1847774
hg1747774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5360, nssv3957, nssv10823, nssv6463
SamplesNA12156, NA12878, NA18956, NA19129
Known GenesPGA3, PGA4, PGA5
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)nsv339
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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