A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5869187



Internal ID22644122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100922995..100923314hg38UCSC Ensembl
chr1:101388551..101388870hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366617
Samples
Known GenesSLC30A7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5869187
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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