A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427072



Internal ID205986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78130162..78131207hg38UCSC Ensembl
chr1:78595846..78596891hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381046
hg191046
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905129
Samples
Known GenesGIPC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427072
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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