A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4445875



Internal ID22112052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95946567..95949176hg38UCSC Ensembl
chr12:96340345..96342954hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382610
hg192610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15758754
Samples
Known GenesAMDHD1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4445875
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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