A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545174



Internal ID16332583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:5844658..5971884hg38UCSC Ensembl
Innerchr1:5904718..6031944hg19UCSC Ensembl
Innerchr1:5827305..5954531hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38127227
hg19127227
hg18127227
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv708953
Samples
Known GenesMIR4689, NPHP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545174
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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