A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6372572



Internal ID21030125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4402776..4526920hg38UCSC Ensembl
chr3:4444460..4568604hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38124145
hg19124145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18099989
Samples
Known GenesITPR1, ITPR1-AS1, SUMF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6372572
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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