A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527



Internal ID15550345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:147972850..148005290hg38UCSC Ensembl
Outerchr6:148293986..148326426hg19UCSC Ensembl
Outerchr6:148335679..148368119hg18UCSC Ensembl
Outerchr6:148335679..148368119hg17UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg386982
hg196982
hg186982
hg176982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6095
SamplesNA12156
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)nsv5527
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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