A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6320508



Internal ID20853606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:118152915..118154154hg38UCSC Ensembl
chr1:118695538..118696777hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18051917
Samples
Known GenesSPAG17
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6320508
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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