A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517372



Internal ID15444665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:124467839..124512572hg38UCSC Ensembl
Innerchr9:127230118..127274851hg19UCSC Ensembl
Innerchr9:126269939..126314672hg18UCSC Ensembl
Innerchr9:124309672..124354405hg17UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3844734
hg1944734
hg1844734
hg1744734
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv667955, nssv651837, nssv654925, nssv698798, nssv672202
Samples
Known GenesNR5A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517372
Frequency
Sample Size2026
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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