A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6605204



Internal ID20978275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130965461..130969517hg38UCSC Ensembl
chr6:131286601..131290657hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg384057
hg194057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18139606
Samples
Known GenesEPB41L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6605204
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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