A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5951



Internal ID15550812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:131335720..131380623hg38UCSC Ensembl
Outerchr7:131020479..131065382hg19UCSC Ensembl
Outerchr7:130671019..130715922hg18UCSC Ensembl
Outerchr7:130477734..130522637hg17UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg3844904
hg1944904
hg1844904
hg1744904
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8428
SamplesNA12156
Known GenesMKLN1
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)nsv5951
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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