A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5932267



Internal ID22707562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99615062..99721468hg38UCSC Ensembl
chr12:100008840..100115246hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38106407
hg19106407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354834
Samples
Known GenesANKS1B, FAM71C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5932267
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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