A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317118



Internal ID20850202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41080998..41083747hg38UCSC Ensembl
chr1:41546670..41549419hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg382750
hg192750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18060789
Samples
Known GenesSCMH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317118
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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