A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3055



Internal ID15540920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:550844..584380hg38UCSC Ensembl
Outerchr20:531488..565024hg19UCSC Ensembl
Outerchr20:479488..513024hg18UCSC Ensembl
Outerchr20:479488..513024hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg386480
hg196480
hg186480
hg176480
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249
Supporting Variants
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)nssv3055
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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