A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6416529



Internal ID21074082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6471669..6497973hg38UCSC Ensembl
chr8:6329190..6355494hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3826305
hg1926305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18169467
Samples
Known GenesMCPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6416529
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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