A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18053230



Internal ID20620270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174930311..174938575hg38UCSC Ensembl
chr1:174899448..174907712hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg388265
hg198265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6320763
Supporting Variants
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18053230
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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