A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545201



Internal ID16332610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6005366..6006457hg38UCSC Ensembl
Innerchr1:6065426..6066517hg19UCSC Ensembl
Innerchr1:5988013..5989104hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381092
hg191092
hg181092
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv70n54
Supporting Variantsnssv708996, nssv708995
Samples
Known GenesKCNAB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545201
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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