A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17358520



Internal ID22584189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155551399..155551707hg38UCSC Ensembl
chr1:155521190..155521498hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5882943
Supporting Variants
Samples
Known GenesASH1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17358520
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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