A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546729



Internal ID16334138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85920193..85938813hg38UCSC Ensembl
Innerchr1:86385876..86404496hg19UCSC Ensembl
Innerchr1:86158464..86177084hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3818621
hg1918621
hg1818621
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv353n54
Supporting Variantsnssv718491, nssv718493, nssv718492
Samples
Known GenesCOL24A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546729
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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