A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3636042



Internal ID18587637
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 StatusS
Merged Variantsnsv1030342
Supporting Variants
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)nssv3636042
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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