A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030342



Internal ID18772873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144005942..144144371hg38UCSC Ensembl
Innerchr4:144927095..145065524hg19UCSC Ensembl
Innerchr4:145146545..145284974hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38138430
hg19138430
hg18138430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5430n100
Supporting Variantsnssv3636042
Samples
Known GenesGYPA, GYPB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030342
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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