A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547733



Internal ID16335142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143546236..143591416hg38UCSC Ensembl
Innerchr1:149040903..149086077hg19UCSC Ensembl
Innerchr1:147307527..147352701hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3845181
hg1945175
hg1845175
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv537n54
Supporting Variantsnssv723270
Samples
Known GenesLOC101929780
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547733
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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