A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18231516



Internal ID20798556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148362101..148365900hg38UCSC Ensembl
chr7:148059193..148062992hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6433183
Supporting Variants
Samples
Known GenesCNTNAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18231516
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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