A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6461341



Internal ID21118894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75358736..75363459hg38UCSC Ensembl
chr12:75752516..75757239hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg384724
hg194724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18003577
Samples
Known GenesCAPS2, GLIPR1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6461341
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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