A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143488



Internal ID342689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7548736..7564048hg38UCSC Ensembl
chr12:7701332..7716644hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3815313
hg1915313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688474
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143488
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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