A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433137



Internal ID211863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42671337..42672781hg38UCSC Ensembl
chr1:43137008..43138452hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381445
hg191445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904852
Samples
Known GenesPPIH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433137
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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