A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15748635



Internal ID21390869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120994198..120996197hg38UCSC Ensembl
chr12:121432001..121434000hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4431644
Supporting Variants
SamplesNB12
Known GenesHNF1A
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15748635
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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