A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18060574



Internal ID20627614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2622939..2628235hg38UCSC Ensembl
chr1:2554378..2559674hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg385297
hg195297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6335010
Supporting Variants
Samples
Known GenesMMEL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18060574
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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