A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006722



Internal ID18749253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:59167..121670hg38UCSC Ensembl
Innerchr4:59060..121550hg19UCSC Ensembl
Innerchr4:49060..111550hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3862504
hg1962491
hg1862491
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5069n100
Supporting Variantsnssv3615278, nssv3615276, nssv3615277, nssv3738073
Samples
Known GenesZNF595, ZNF718
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006722
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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