A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5461



Internal ID15550273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:123507530..123535468hg38UCSC Ensembl
Outerchr6:123828675..123856613hg19UCSC Ensembl
Outerchr6:123870374..123898312hg18UCSC Ensembl
Outerchr6:123870374..123898312hg17UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg386144
hg196144
hg186144
hg176144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8290, nssv3467
SamplesNA12156, NA12878
Known GenesTRDN
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)nsv5461
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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