A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5200



Internal ID15549986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:11581666..11608696hg38UCSC Ensembl
Outerchr6:11581899..11608929hg19UCSC Ensembl
Outerchr6:11689885..11716915hg18UCSC Ensembl
Outerchr6:11689885..11716915hg17UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg386425
hg196425
hg186425
hg176425
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8223
SamplesNA12156
Known GenesTMEM170B
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)nsv5200
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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