A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550121



Internal ID15990844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:18643243..18687730hg38UCSC Ensembl
Innerchr10:18932172..18976659hg19UCSC Ensembl
Innerchr10:18972178..19016665hg18UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3844488
hg1944488
hg1844488
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174140
SamplesNINDS_214
Known GenesARL5B, NSUN6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550121
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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