A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700507



Internal ID15090473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3492524..3497426hg38UCSC Ensembl
Innerchr4:3494251..3499153hg19UCSC Ensembl
Innerchr4:3464049..3468951hg18UCSC Ensembl
Innerchr4:3531220..3536122hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg384903
hg194903
hg184903
hg174903
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516505
Supporting Variants
Samples
Known GenesDOK7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700507
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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