A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5596692



Internal ID21545301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6579042..6579176hg38UCSC Ensembl
chr12:6688208..6688342hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17087815
SamplesHG00732
Known GenesCHD4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5596692
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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