A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18211620



Internal ID20778660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6651201..6855900hg38UCSC Ensembl
chr4:6652928..6857627hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38204700
hg19204700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6370080
Supporting Variants
Samples
Known GenesBLOC1S4, KIAA0232, LOC93622, MRFAP1L1, S100P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18211620
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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