A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5992



Internal ID15204171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:146225652..146270328hg38UCSC Ensembl
Outerchr7:145922744..145967420hg19UCSC Ensembl
Outerchr7:145553677..145598353hg18UCSC Ensembl
Outerchr7:145360392..145405068hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3844677
hg1944677
hg1844677
hg1744677
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8443
SamplesNA12156
Known GenesCNTNAP2
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)nsv5992
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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