A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14300376



Internal ID22163274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57190356..57190428hg38UCSC Ensembl
chr20:55765412..55765484hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3542515
Supporting Variants
SamplesHG00514
Known GenesBMP7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14300376
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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