A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470



Internal ID15550283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:127992351..128026680hg38UCSC Ensembl
Outerchr6:128313496..128347825hg19UCSC Ensembl
Outerchr6:128355189..128389518hg18UCSC Ensembl
Outerchr6:128355189..128389518hg17UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg385404
hg195404
hg185404
hg175404
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3468
SamplesNA12878
Known GenesPTPRK
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)nsv5470
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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