A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2757943



Internal ID17411355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:132553912..132561059hg38UCSC Ensembl
Innerchr3:132272756..132279903hg19UCSC Ensembl
Innerchr3:133755446..133762593hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg387148
hg197148
hg187148
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965409
Supporting Variants
SamplesHGDP00521
Known GenesACAD11, NPHP3-ACAD11
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2757943
Frequency
Sample Size10
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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