A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4443714



Internal ID22109895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176530228..176530324hg38UCSC Ensembl
chr5:175957229..175957325hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15766034
Samples
Known GenesRNF44
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4443714
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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