A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6482444



Internal ID21139997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121882975..121901630hg38UCSC Ensembl
chr12:122320881..122339536hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3818656
hg1918656
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18194825
Samples
Known GenesHPD, PSMD9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6482444
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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