A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474



Internal ID15550287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:129455682..129488279hg38UCSC Ensembl
Outerchr6:129776827..129809424hg19UCSC Ensembl
Outerchr6:129818520..129851117hg18UCSC Ensembl
Outerchr6:129818520..129851117hg17UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg387430
hg197430
hg187430
hg177430
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2614
SamplesNA18555
Known GenesLAMA2
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)nsv5474
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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