A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17422585



Internal ID22480455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56821746..56821746hg38UCSC Ensembl
chr4:57687912..57687912hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5956921
Supporting Variants
Samples
Known GenesSPINK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17422585
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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