A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3490



Internal ID15538218
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
hg384246
hg194246
hg184246
hg174246
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5594
Supporting Variants
SamplesNA12878
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)nssv3490
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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