A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977550



Internal ID22752485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101735871..101735871hg38UCSC Ensembl
chr12:102129649..102129649hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366502
Samples
Known GenesSYCP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977550
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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