A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5914196



Internal ID22689413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23642791..23643103hg38UCSC Ensembl
chr12:23795725..23796037hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361516
Samples
Known GenesSOX5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5914196
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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