A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18000039



Internal ID20567079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26457678..26458279hg38UCSC Ensembl
chr12:26610611..26611212hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6455925
Supporting Variants
Samples
Known GenesITPR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18000039
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00031


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