A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6428053



Internal ID21085606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131121520..131125879hg38UCSC Ensembl
chr7:130806279..130810638hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg384360
hg194360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18154070
Samples
Known GenesMKLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6428053
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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