A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999107



Internal ID18811957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:40676645..40778347hg38UCSC Ensembl
Innerchr4:40678662..40780364hg19UCSC Ensembl
Innerchr4:40373419..40475121hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38101703
hg19101703
hg18101703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5195n100
Supporting Variantsnssv3625040, nssv3625041
Samples
Known GenesNSUN7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999107
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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