A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5222



Internal ID15550010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:20020716..20048402hg38UCSC Ensembl
Outerchr6:20020947..20048633hg19UCSC Ensembl
Outerchr6:20128926..20156612hg18UCSC Ensembl
Outerchr6:20128926..20156612hg17UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg386883
hg196883
hg186883
hg176883
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv530
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)nsv5222
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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