A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4443691



Internal ID22109872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12944747..12944800hg38UCSC Ensembl
chr12:13097681..13097734hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15758731
Samples
Known GenesGPRC5D
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4443691
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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