A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5329



Internal ID15550127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:65664325..65727064hg38UCSC Ensembl
Outerchr6:66374218..66436957hg19UCSC Ensembl
Outerchr6:66430939..66493678hg18UCSC Ensembl
Outerchr6:66430939..66493678hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3862740
hg1962740
hg1862740
hg1762740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3444, nssv11128, nssv2596
SamplesNA12878, NA15510, NA18555
Known GenesEYS
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)nsv5329
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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