A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005276



Internal ID19094493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68506273..68655679hg38UCSC Ensembl
Innerchr4:69371991..69521397hg19UCSC Ensembl
Innerchr4:69054586..69203992hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38149407
hg19149407
hg18149407
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5264n100
Supporting Variantsnssv3627236, nssv3743168, nssv3627253, nssv3743157, nssv3627256, nssv3627255, nssv3627270, nssv3627266, nssv3627247, nssv3743173, nssv3743166, nssv3627276, nssv3743172, nssv3627258, nssv3627252, nssv3627244, nssv3627278, nssv3627263, nssv3627234, nssv3627250, nssv3627254, nssv3743170, nssv3627239, nssv3627273, nssv3627264, nssv3627248, nssv3743158, nssv3627265, nssv3627246, nssv3743163, nssv3627241, nssv3627242, nssv3627267, nssv3627272, nssv3627262, nssv3627259, nssv3627268, nssv3743165, nssv3627271, nssv3627257, nssv3627251, nssv3627240, nssv3627260, nssv3627275, nssv3743169, nssv3743159, nssv3743164, nssv3627261, nssv3627238, nssv3627277, nssv3627235, nssv3743160, nssv3627237, nssv3627243, nssv3743162, nssv3743167, nssv3743161, nssv3627249, nssv3627269, nssv3627274, nssv3743171, nssv3627245
Samples
Known GenesUGT2B15, UGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005276
Frequency
Sample Size11257
Observed Gain61
Observed Loss1
Observed Complex0
Frequencyn/a


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