A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5614



Internal ID15550441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1260407..1290209hg38UCSC Ensembl
Outerchr7:1300043..1329845hg19UCSC Ensembl
Outerchr7:1266569..1296371hg18UCSC Ensembl
Outerchr7:1073284..1103086hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg386585
hg196585
hg186585
hg176585
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2636, nssv8333, nssv3498
SamplesNA12156, NA12878, NA18555
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)nsv5614
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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