A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6434953



Internal ID21092506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6495896..6558824hg38UCSC Ensembl
chr8:6353417..6416345hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3862929
hg1962929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18169320
Samples
Known GenesANGPT2, MCPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6434953
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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