A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2647



Internal ID15540463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:49656462..49664810hg38UCSC Ensembl
Outerchr7:49696058..49704406hg19UCSC Ensembl
Outerchr7:49666604..49674952hg18UCSC Ensembl
Outerchr7:49473319..49481667hg17UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg388349
hg198349
hg188349
hg178349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5736
Supporting Variants
SamplesNA18555
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)nssv2647
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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