A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6465790



Internal ID21123343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52448940..52490060hg38UCSC Ensembl
chr12:52842724..52883844hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3841121
hg1941121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001393
Samples
Known GenesKRT6A, KRT6B, KRT6C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6465790
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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