A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5951847



Internal ID22677197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:142398401..142398401hg38UCSC Ensembl
chr4:143319554..143319554hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17422843
Samples
Known GenesINPP4B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5951847
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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