A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5938595



Internal ID22713977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122380558..122422519hg38UCSC Ensembl
chr12:122865105..122907066hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3841962
hg1941962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358353
Samples
Known GenesCLIP1, LOC100507066
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5938595
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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