A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6502500



Internal ID20875746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37743343..37744212hg38UCSC Ensembl
chr17:36103334..36104203hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38870
hg19870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18035247
Samples
Known GenesHNF1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6502500
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer