A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547



Internal ID15550367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:153613071..153646821hg38UCSC Ensembl
Outerchr6:153934206..153967956hg19UCSC Ensembl
Outerchr6:153975899..154009649hg18UCSC Ensembl
Outerchr6:154026320..154060070hg17UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg386276
hg196276
hg186276
hg176276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2741
SamplesNA18555
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)nsv5547
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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