A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18153887



Internal ID20720927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147509601..147511000hg38UCSC Ensembl
chr7:147206693..147208092hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6426276
Supporting Variants
Samples
Known GenesCNTNAP2, MIR548I4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18153887
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00024


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