A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv578



Internal ID15545321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:123151235..123185157hg38UCSC Ensembl
Outerchr6:123472380..123506302hg19UCSC Ensembl
Outerchr6:123514079..123548001hg18UCSC Ensembl
Outerchr6:123514079..123548001hg17UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg387070
hg197070
hg187070
hg177070
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460
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)nssv578
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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