A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2328



Internal ID15540814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:13932962..13964445hg38UCSC Ensembl
Outerchr20:13913608..13945091hg19UCSC Ensembl
Outerchr20:13861608..13893091hg18UCSC Ensembl
Outerchr20:13861608..13893091hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg386962
hg196962
hg186962
hg176962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3296
Supporting Variants
SamplesNA18555
Known GenesSEL1L2
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)nssv2328
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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