A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6423814



Internal ID21081367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60676301..60683600hg38UCSC Ensembl
chr8:61588860..61596159hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg387300
hg197300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18229855
Samples
Known GenesCHD7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6423814
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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