A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6482232



Internal ID21139785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:22933364..24355519hg38UCSC Ensembl
chr13:23507503..24929657hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg381422156
hg191422155
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1778n223
Supporting Variantsnssv18196286
Samples
Known GenesANKRD20A19P, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1, LINC00327, MIPEP, MIR2276, SACS, SACS-AS1, SGCG, SPATA13, SPATA13-AS1, TNFRSF19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6482232
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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