A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4444062



Internal ID22110243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29420474..29420815hg38UCSC Ensembl
chr12:29573407..29573748hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15759938
Samples
Known GenesOVCH1-AS1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4444062
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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