A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1603



Internal ID15198783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:39201639..39233334hg38UCSC Ensembl
Outerchr20:37830282..37861977hg19UCSC Ensembl
Outerchr20:37263696..37295391hg18UCSC Ensembl
Outerchr20:37263696..37295391hg17UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg389280
hg199280
hg189280
hg179280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3375
Supporting Variants
SamplesNA19240
Known GenesLOC339568
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)nssv1603
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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