A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047203



Internal ID19136422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44715242..44862350hg38UCSC Ensembl
Innerchr10:45210690..45357798hg19UCSC Ensembl
Innerchr10:44530696..44677804hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38147109
hg19147109
hg18147109
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv729n100
Supporting Variantsnssv3516785, nssv3518524, nssv3707801, nssv3707787, nssv3506180, nssv3518900, nssv3517034, nssv3512976, nssv3503601, nssv3507132, nssv3707785, nssv3707796, nssv3510218, nssv3506522, nssv3522468, nssv3510897, nssv3509796, nssv3707794, nssv3506344, nssv3519764, nssv3503457, nssv3707799, nssv3517954, nssv3519268, nssv3518644, nssv3707793, nssv3707792, nssv3521359, nssv3518200, nssv3511656, nssv3707797, nssv3510690, nssv3707790, nssv3516711, nssv3505127, nssv3707798, nssv3513176, nssv3707791, nssv3519965, nssv3509925, nssv3503254, nssv3707788, nssv3707803, nssv3506387, nssv3522403, nssv3511155, nssv3518668, nssv3503652, nssv3503533, nssv3504964, nssv3707800, nssv3503444, nssv3707795, nssv3519170, nssv3505712, nssv3707786, nssv3513232, nssv3707784, nssv3508055, nssv3511286, nssv3707802, nssv3519122, nssv3707789, nssv3510431, nssv3513593, nssv3514958, nssv3505554
Samples
Known GenesTMEM72-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047203
Frequency
Sample Size11257
Observed Gain67
Observed Loss0
Observed Complex0
Frequencyn/a


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