A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6320011



Internal ID20853109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174905705..174917709hg38UCSC Ensembl
chr1:174874842..174886846hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3812005
hg1912005
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18053228
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6320011
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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