A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5593



Internal ID15550418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167969180..167999848hg38UCSC Ensembl
Outerchr6:168369860..168400528hg19UCSC Ensembl
Outerchr6:168112709..168143377hg18UCSC Ensembl
Outerchr6:168188416..168219084hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg385164
hg195164
hg185164
hg175164
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2746, nssv3489
SamplesNA12878, NA18555
Known GenesHGC6.3, KIF25-AS1, MLLT4
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)nsv5593
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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