A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495162



Internal ID272282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30760714..30762203hg38UCSC Ensembl
chr12:30913648..30915137hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381490
hg191490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057102
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495162
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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