A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6219



Internal ID15551106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:60687211..60731999hg38UCSC Ensembl
Outerchr8:61599770..61644558hg19UCSC Ensembl
Outerchr8:61762324..61807112hg18UCSC Ensembl
Outerchr8:61762324..61807112hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3844789
hg1944789
hg1844789
hg1744789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8500
SamplesNA12156
Known GenesCHD7
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)nsv6219
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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