A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv563



Internal ID15545352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:82257363..82270940hg38UCSC Ensembl
Outerchr6:82967080..82980657hg19UCSC Ensembl
Outerchr6:83023799..83037376hg18UCSC Ensembl
Outerchr6:83023799..83037376hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg389577
hg199577
hg189577
hg179577
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5373
Supporting Variants
SamplesNA19240
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)nssv563
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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