A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5876175



Internal ID22651135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62077622..62077695hg38UCSC Ensembl
chr2:62304757..62304830hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407018
Samples
Known GenesCOMMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5876175
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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