A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6470929



Internal ID21128482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81292901..81293700hg38UCSC Ensembl
chr12:81686680..81687479hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18003734
Samples
Known GenesPPFIA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6470929
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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