A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227101



Internal ID22369699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61916667..61982986hg38UCSC Ensembl
Outerchr20:60491723..60558042hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3866320
hg1966320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267199, nssv14267200, nssv14267202, nssv14267203, nssv14267204, nssv14267198, nssv14267201
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00514
Known GenesCDH4, MIR1257, TAF4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227101
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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