A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027899



Internal ID18770430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144061672..144111731hg38UCSC Ensembl
Innerchr4:144982825..145032884hg19UCSC Ensembl
Innerchr4:145202275..145252334hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3850060
hg1950060
hg1850060
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3636061, nssv3636060, nssv3744261
Samples
Known GenesGYPA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027899
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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