A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5647



Internal ID15550477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:17682481..17717257hg38UCSC Ensembl
Outerchr7:17722105..17756881hg19UCSC Ensembl
Outerchr7:17688630..17723406hg18UCSC Ensembl
Outerchr7:17495345..17530121hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg384968
hg194968
hg184968
hg174968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3505
SamplesNA12878
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)nsv5647
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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