A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969646



Internal ID22744581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9606707..9606707hg38UCSC Ensembl
chr12:9759303..9759303hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351933
Samples
Known GenesKLRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969646
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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