A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044247



Internal ID18786778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133537633..133769367hg38UCSC Ensembl
Innerchr10:135351137..135506692hg19UCSC Ensembl
Innerchr10:135201127..135356682hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38231735
hg19155556
hg18155556
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1007n100
Supporting Variantsnssv3503628, nssv3517089, nssv3506460, nssv3504252, nssv3514433, nssv3513483, nssv3504535, nssv3513647, nssv3507788, nssv3515820, nssv3504007, nssv3505130, nssv3511402, nssv3518793, nssv3510641, nssv3519555, nssv3511097, nssv3518729, nssv3506471, nssv3518638, nssv3519095, nssv3502796, nssv3520389, nssv3508101, nssv3508045, nssv3503912, nssv3522091, nssv3510165, nssv3522735, nssv3511528, nssv3519107, nssv3522656, nssv3511699, nssv3519809, nssv3510979, nssv3503409, nssv3503557, nssv3508248, nssv3517681, nssv3521403, nssv3518948, nssv3515803
Samples
Known GenesCYP2E1, DUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, FRG2B, LOC100653046, SPRNP1, SYCE1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044247
Frequency
Sample Size29084
Observed Gain42
Observed Loss0
Observed Complex0
Frequencyn/a


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