A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495707



Internal ID272806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26995912..26996237hg38UCSC Ensembl
chr12:27148845..27149170hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055499
Samples
Known GenesTM7SF3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495707
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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