A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051412



Internal ID18793943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12059681..12127501hg38UCSC Ensembl
Innerchr10:12101680..12169500hg19UCSC Ensembl
Innerchr10:12141686..12209506hg18UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3867821
hg1967821
hg1867821
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv673n100
Supporting Variantsnssv3498975, nssv3484886, nssv3494494, nssv3484100, nssv3500480, nssv3495414, nssv3484214, nssv3498995, nssv3495718, nssv3498421, nssv3492345, nssv3494716, nssv3492553
Samples
Known GenesDHTKD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051412
Frequency
Sample Size29084
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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