A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5932743



Internal ID22708046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4540124..4540174hg38UCSC Ensembl
chr17:4443419..4443469hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371869
Samples
Known GenesMYBBP1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5932743
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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