A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6329276



Internal ID20862427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2629720..2630413hg38UCSC Ensembl
chr1:2561159..2561852hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38694
hg19694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18060578
Samples
Known GenesMMEL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6329276
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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