A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003000



Internal ID19092217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:77267538..77334274hg38UCSC Ensembl
Innerchr4:78188691..78255427hg19UCSC Ensembl
Innerchr4:78407715..78474451hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3866737
hg1966737
hg1866737
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5325n100
Supporting Variantsnssv3633868, nssv3633869
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003000
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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