A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6531002



Internal ID20904363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35842968..35843357hg38UCSC Ensembl
chr19:36333870..36334259hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18046312
Samples
Known GenesNPHS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6531002
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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