A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6316002



Internal ID20849078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94831565..94836880hg38UCSC Ensembl
chr1:95297121..95302436hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg385316
hg195316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18066070
Samples
Known GenesSLC44A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6316002
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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