A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6530912



Internal ID20904273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50448923..50484344hg38UCSC Ensembl
chr19:50952180..50987601hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3835422
hg1935422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18048669
Samples
Known GenesEMC10, FAM71E1, MYBPC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6530912
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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