A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv684138



Internal ID15074104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177232569..177242486hg38UCSC Ensembl
Innerchr5:176659570..176669487hg19UCSC Ensembl
Innerchr5:176592176..176602093hg18UCSC Ensembl
Innerchr5:176592176..176602093hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg389918
hg199918
hg189918
hg179918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515632
Supporting Variants
Samples
Known GenesNSD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv684138
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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