A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5861778



Internal ID22636713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102039649..102042109hg38UCSC Ensembl
chr12:102433427..102435887hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg382461
hg192461
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17468699
Samples
Known GenesCCDC53
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5861778
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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