A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443704



Internal ID222097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11701151..11701923hg38UCSC Ensembl
chr2:11841277..11842049hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38773
hg19773
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909730
Samples
Known GenesLPIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443704
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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