A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5892640



Internal ID22667693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71613010..71614378hg38UCSC Ensembl
chr5:70908837..70910205hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381369
hg191369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17410842
Samples
Known GenesMCCC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5892640
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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