A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5595677



Internal ID21544284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10589055..10589141hg38UCSC Ensembl
chr12:10741654..10741740hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077071
SamplesHG00512
Known GenesKLRAP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5595677
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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