A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550714



Internal ID15991437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44912563..44951343hg38UCSC Ensembl
Innerchr10:45408011..45446791hg19UCSC Ensembl
Innerchr10:44728017..44766797hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3838781
hg1938781
hg1838781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173570
SamplesHGDP01353
Known GenesTMEM72, TMEM72-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550714
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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