A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516451



Internal ID15097058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:73616..187687hg38UCSC Ensembl
Innerchr4:73508..181476hg19UCSC Ensembl
Innerchr4:63508..171476hg18UCSC Ensembl
Innerchr4:63508..171476hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38114072
hg19107969
hg18107969
hg17107969
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv677510, nssv690223, nssv670591, nssv660254, nssv656016, nssv679808, nssv652931, nssv681610, nssv680053, nssv705977, nssv696789, nssv690920, nssv681489, nssv694711, nssv693726, nssv664011
Samples
Known GenesZNF595, ZNF718
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516451
Frequency
Sample Size2026
Observed Gain12
Observed Loss4
Observed Complex0
Frequencyn/a


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