A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547703



Internal ID16335112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143544453..143590102hg38UCSC Ensembl
Innerchr1:149039120..149084763hg19UCSC Ensembl
Innerchr1:147305744..147351387hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3845650
hg1945644
hg1845644
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv537n54
Supporting Variantsnssv723188
Samples
Known GenesLOC101929780
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547703
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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