A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427520



Internal ID206424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180255310..180264174hg38UCSC Ensembl
chr1:180224445..180233309hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg388865
hg198865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893282
Samples
Known GenesLHX4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427520
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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