A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594



Internal ID15550419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168216739..168252242hg38UCSC Ensembl
Outerchr6:168617419..168652922hg19UCSC Ensembl
Outerchr6:168360268..168395771hg18UCSC Ensembl
Outerchr6:168435975..168471478hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg388546
hg198546
hg188546
hg178546
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3490, nssv6106, nssv4956
SamplesNA12156, NA12878, NA19129
Known Genes
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)nsv5594
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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