A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464929



Internal ID242800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40875739..41004828hg38UCSC Ensembl
chr5:40875841..41004930hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38129090
hg19129090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16964511
Samples
Known GenesC7, MROH2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464929
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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