A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944643



Internal ID22720111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14485478..14490504hg38UCSC Ensembl
chr19:14596290..14601316hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg385027
hg195027
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400300
Samples
Known GenesGIPC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944643
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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