A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469242



Internal ID21126795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:366963..410594hg38UCSC Ensembl
chr12:476129..519760hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3843632
hg1943632
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000832
Samples
Known GenesCCDC77, KDM5A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469242
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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