A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595620



Internal ID16036343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144107278..144114975hg38UCSC Ensembl
Innerchr4:145028431..145036128hg19UCSC Ensembl
Innerchr4:145247881..145255578hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg387698
hg197698
hg187698
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1008568
Samples
Known GenesGYPA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595620
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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