A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1035709



Internal ID18778240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12054410..12183299hg38UCSC Ensembl
Innerchr10:12096409..12225298hg19UCSC Ensembl
Innerchr10:12136415..12265304hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38128890
hg19128890
hg18128890
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3707690
Samples
Known GenesDHTKD1, NUDT5, SEC61A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1035709
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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