A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930187



Internal ID22705449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51834012..51834099hg38UCSC Ensembl
chr12:52227796..52227883hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361662
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930187
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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