A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5929614



Internal ID22704870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57261418..57267576hg38UCSC Ensembl
chr12:57655201..57661359hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg386159
hg196159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369266
Samples
Known GenesR3HDM2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5929614
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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