A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6039071



Internal ID21948414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75104466..75104637hg38UCSC Ensembl
chr12:75498246..75498417hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17609714
Samples
Known GenesKCNC2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6039071
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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