A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548275



Internal ID16335684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179009274..179016523hg38UCSC Ensembl
Innerchr1:178978409..178985658hg19UCSC Ensembl
Innerchr1:177245032..177252281hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg387250
hg197250
hg187250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv729148
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548275
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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