A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6220



Internal ID15551108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:61187637..61243446hg38UCSC Ensembl
Outerchr8:62100196..62156005hg19UCSC Ensembl
Outerchr8:62262750..62318559hg18UCSC Ensembl
Outerchr8:62262750..62318559hg17UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg387321
hg197321
hg187321
hg177321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2789, nssv735, nssv6227, nssv3656
SamplesNA12156, NA12878, NA18555, NA19240
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)nsv6220
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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