A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5285



Internal ID15550079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:44785336..44820455hg38UCSC Ensembl
Outerchr6:44753073..44788192hg19UCSC Ensembl
Outerchr6:44861051..44896170hg18UCSC Ensembl
Outerchr6:44861051..44896170hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg385861
hg195861
hg185861
hg175861
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548
SamplesNA19240
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)nsv5285
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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