A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031399



Internal ID19120621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143995988..144091396hg38UCSC Ensembl
Innerchr4:144917141..145012549hg19UCSC Ensembl
Innerchr4:145136591..145231999hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3895409
hg1995409
hg1895409
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5428n100
Supporting Variantsnssv3635275, nssv3635271, nssv3635260, nssv3635272, nssv3635256, nssv3635267, nssv3635258, nssv3635265, nssv3635257, nssv3635268, nssv3635254, nssv3635269, nssv3635276, nssv3635262, nssv3635266, nssv3635264, nssv3635263, nssv3635259, nssv3635273, nssv3635261, nssv3635270, nssv3635255, nssv3635274
Samples
Known GenesGYPB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031399
Frequency
Sample Size11257
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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