A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947



Internal ID15550807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:129064846..129109831hg38UCSC Ensembl
Outerchr7:128704900..128749885hg19UCSC Ensembl
Outerchr7:128492136..128537121hg18UCSC Ensembl
Outerchr7:128298851..128343836hg17UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3844986
hg1944986
hg1844986
hg1744986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8426
SamplesNA12156
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)nsv5947
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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