A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6320592



Internal ID20853691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174179741..174391803hg38UCSC Ensembl
chr1:174148879..174360941hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38212063
hg19212063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18053162
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6320592
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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