A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718



Internal ID15550555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:42472004..42508875hg38UCSC Ensembl
Outerchr7:42511603..42548474hg19UCSC Ensembl
Outerchr7:42478128..42514999hg18UCSC Ensembl
Outerchr7:42284843..42321714hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg386637
hg196637
hg186637
hg176637
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523, nssv4976, nssv8367
SamplesNA12156, NA12878, NA19129
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)nsv5718
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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