A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430961



Internal ID209754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36158530..36166531hg38UCSC Ensembl
chr1:36624131..36632132hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg388002
hg198002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903733
Samples
Known GenesMAP7D1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430961
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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