A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204903



Internal ID22353682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:95925781..95964833hg38UCSC Ensembl
Outerchr6:96373657..96412709hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg3839053
hg1939053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275578, nssv14275580, nssv14275579
SamplesNA19238, NA19239, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204903
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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