A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17442911



Internal ID22500781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34952876..34955379hg38UCSC Ensembl
chr6:34920653..34923156hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg382504
hg192504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5907421
Supporting Variants
Samples
Known GenesANKS1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17442911
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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