A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6467021



Internal ID21124574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31530161..31537686hg38UCSC Ensembl
chr12:31683095..31690620hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg387526
hg197526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17999003
Samples
Known GenesDENND5B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6467021
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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