A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317644



Internal ID20850731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248793742..248895801hg38UCSC Ensembl
chr1:249087941..249190000hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38102060
hg19102060
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202813
Samples
Known GenesMIR3124, SH3BP5L, ZNF672, ZNF692
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317644
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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