A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550861



Internal ID15991584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:51446996..51451622hg38UCSC Ensembl
Innerchr10:53206756..53211382hg19UCSC Ensembl
Innerchr10:52876762..52881388hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg384627
hg194627
hg184627
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1132n54
Supporting Variantsnssv747839, nssv747840
Samples
Known GenesPRKG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550861
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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