A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545414



Internal ID15986137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:11502433..11554211hg38UCSC Ensembl
Innerchr1:11562490..11614268hg19UCSC Ensembl
Innerchr1:11485077..11536855hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3851779
hg1951779
hg1851779
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv107n54
Supporting Variantsnssv709933
Samples
Known GenesPTCHD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545414
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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