A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6320246



Internal ID20853344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41178640..41188042hg38UCSC Ensembl
chr1:41644312..41653714hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg389403
hg199403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18060795
Samples
Known GenesSCMH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6320246
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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