A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5242



Internal ID15550032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:30493801..30524434hg38UCSC Ensembl
Outerchr6:30461578..30492211hg19UCSC Ensembl
Outerchr6:30569557..30600190hg18UCSC Ensembl
Outerchr6:30569557..30600190hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg388654
hg198654
hg188654
hg178654
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4905
SamplesNA19129
Known GenesHLA-E
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)nsv5242
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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