A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546145



Internal ID15986868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:44752870..44827846hg38UCSC Ensembl
Innerchr1:45218542..45293518hg19UCSC Ensembl
Innerchr1:44991129..45066105hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3874977
hg1974977
hg1874977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173842
Samples1780854339_A
Known GenesBEST4, BTBD19, KIF2C, PLK3, PTCH2, RPS8, SNORD38A, SNORD38B, SNORD46, SNORD55, TCTEX1D4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546145
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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