A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432984



Internal ID211713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152108268..152109075hg38UCSC Ensembl
chr1:152080744..152081551hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38808
hg19808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891167
Samples
Known GenesTCHH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432984
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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