A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944740



Internal ID22720209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:82249850..82337035hg38UCSC Ensembl
chr12:82643629..82730814hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3887186
hg1987186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350347
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944740
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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