A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18225678



Internal ID20792718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148281840..148295495hg38UCSC Ensembl
chr7:147978932..147992587hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3813656
hg1913656
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6416461
Supporting Variants
Samples
Known GenesCNTNAP2, MIR548T
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18225678
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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