A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6428231



Internal ID21085784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131113968..131118851hg38UCSC Ensembl
chr7:130798727..130803610hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg384884
hg194884
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18233584
Samples
Known GenesMKLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6428231
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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