A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4433197



Internal ID21395199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:91386444..91387443hg38UCSC Ensembl
chr1:91852001..91853000hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15753581, nssv15746756
SamplesMDQ010, MDQ025
Known GenesHFM1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4433197
Frequency
Sample Size15
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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