A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054541



Internal ID18797072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69482727..69505349hg38UCSC Ensembl
Innerchr9:72097643..72120265hg19UCSC Ensembl
Innerchr9:71287463..71310085hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3822623
hg1922623
hg1822623
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7672n100
Supporting Variantsnssv3696276, nssv3696305, nssv3696295, nssv3696303, nssv3696299, nssv3696301, nssv3696269, nssv3759762, nssv3696285, nssv3696283, nssv3759760, nssv3696277, nssv3696266, nssv3696281, nssv3696307, nssv3696302, nssv3696287, nssv3696280, nssv3696291, nssv3696284, nssv3759754, nssv3696300, nssv3759759, nssv3696304, nssv3759757, nssv3696282, nssv3696275, nssv3696273, nssv3696289, nssv3759758, nssv3696267, nssv3759755, nssv3696294, nssv3696286, nssv3696306, nssv3696296, nssv3696270, nssv3696274, nssv3696290, nssv3759764, nssv3696298, nssv3696268, nssv3696297, nssv3696278, nssv3696288, nssv3759753, nssv3696271, nssv3696272, nssv3759761, nssv3696279, nssv3696293, nssv3759763, nssv3696292, nssv3759756
Samples
Known GenesAPBA1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054541
Frequency
Sample Size29084
Observed Gain33
Observed Loss21
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer