A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6596246



Internal ID20969317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:52690073..53366193hg38UCSC Ensembl
chr19:53193326..53869446hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38676121
hg19676121
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3699n223
Supporting Variantsnssv18246716
Samples
Known GenesBIRC8, ERVV-1, ERVV-2, FAM90A27P, VN1R2, VN1R4, ZNF160, ZNF28, ZNF320, ZNF321P, ZNF347, ZNF415, ZNF468, ZNF525, ZNF600, ZNF611, ZNF665, ZNF677, ZNF702P, ZNF816, ZNF816-ZNF321P, ZNF818P, ZNF83, ZNF845
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6596246
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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