A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550002



Internal ID16337411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:14933172..15018884hg38UCSC Ensembl
Innerchr10:14975171..15060883hg19UCSC Ensembl
Innerchr10:15015177..15100889hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3885713
hg1985713
hg1885713
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv962n54
Supporting Variantsnssv1174128
SamplesNINDS_174
Known GenesDCLRE1C, MEIG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550002
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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