A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5384



Internal ID15550188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:85974323..86018206hg38UCSC Ensembl
Outerchr6:86684041..86727924hg19UCSC Ensembl
Outerchr6:86740760..86784643hg18UCSC Ensembl
Outerchr6:86740760..86784643hg17UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3843884
hg1943884
hg1843884
hg1743884
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2603, nssv568, nssv9431, nssv6077, nssv9696, nssv3456, nssv4932
SamplesNA18507, NA12156, NA12878, NA18555, NA18517, NA19240, 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)nsv5384
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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