A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048457



Internal ID19137676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133573736..133769367hg38UCSC Ensembl
Innerchr10:135387240..135506692hg19UCSC Ensembl
Innerchr10:135237230..135356682hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38195632
hg19119453
hg18119453
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1008n100
Supporting Variantsnssv3512758, nssv3513158, nssv3706383, nssv3509216, nssv3510872, nssv3517957, nssv3509581, nssv3508152, nssv3504893, nssv3507953, nssv3521038, nssv3504378, nssv3516892, nssv3512530, nssv3504550
Samples
Known GenesDUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, FRG2B, LOC100653046
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048457
Frequency
Sample Size11257
Observed Gain3
Observed Loss12
Observed Complex0
Frequencyn/a


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