A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18153916



Internal ID20720956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147735788..147738259hg38UCSC Ensembl
chr7:147432880..147435351hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg382472
hg192472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6426475
Supporting Variants
Samples
Known GenesCNTNAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18153916
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00018


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