A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212544



Internal ID20779584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:57183900..57234574hg38UCSC Ensembl
chr4:58050066..58100740hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3850675
hg1950675
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6390287
Supporting Variants
Samples
Known GenesIGFBP7-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212544
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00647


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