A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6416541



Internal ID21074094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146918063..147125560hg38UCSC Ensembl
chr7:146615155..146822652hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38207498
hg19207498
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18233377
Samples
Known GenesCNTNAP2, MIR548AQ, MIR548AR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6416541
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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