A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017947



Internal ID18760480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:36927550..37017078hg38UCSC Ensembl
Innerchr5:36927652..37017180hg19UCSC Ensembl
Innerchr5:36963409..37052937hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3889529
hg1989529
hg1889529
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5632n100
Supporting Variantsnssv3637077
Samples
Known GenesNIPBL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017947
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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