A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6329960



Internal ID20863114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246493563..246655887hg38UCSC Ensembl
chr1:246656865..246819189hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38162325
hg19162325
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200703
Samples
Known GenesCNST, LOC255654, SMYD3, TFB2M
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6329960
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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