A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1035500



Internal ID19124719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133543898..133769367hg38UCSC Ensembl
Innerchr10:135357402..135506692hg19UCSC Ensembl
Innerchr10:135207392..135356682hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38225470
hg19149291
hg18149291
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1007n100
Supporting Variantsnssv3518057, nssv3508902, nssv3510439, nssv3507429, nssv3502806, nssv3509358, nssv3505638, nssv3520413, nssv3520318, nssv3520907, nssv3503656, nssv3507289, nssv3510117, nssv3517261, nssv3517535, nssv3522287, nssv3506211, nssv3509957, nssv3506482, nssv3512078, nssv3516995, nssv3508260, nssv3504689, nssv3510916
Samples
Known GenesDUX2, 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)nsv1035500
Frequency
Sample Size11257
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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