A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4442135



Internal ID22108318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73775881..73775931hg38UCSC Ensembl
chr5:73071706..73071756hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15759341
Samples
Known GenesARHGEF28
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4442135
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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