A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5872169



Internal ID22647108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:56244845..56250886hg38UCSC Ensembl
chr2:56471980..56478021hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg386042
hg196042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407915
Samples
Known GenesCCDC85A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5872169
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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