A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702469



Internal ID15439121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6594749..6600015hg38UCSC Ensembl
Innerchr4:6596476..6601742hg19UCSC Ensembl
Innerchr4:6647377..6652643hg18UCSC Ensembl
Innerchr4:6714548..6719814hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg385267
hg195267
hg185267
hg175267
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526206
Supporting Variants
Samples
Known GenesMAN2B2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702469
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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