A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204680



Internal ID22353491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:54048136..54107702hg38UCSC Ensembl
Outerchr6:53912934..53972500hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3859567
hg1959567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274978, nssv14274976, nssv14274972, nssv14274977, nssv14274974, nssv14274973, nssv14274975
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesMLIP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204680
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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