A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999411



Internal ID18812261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12269..59167hg38UCSC Ensembl
Innerchr4:12269..59060hg19UCSC Ensembl
Innerchr4:2269..49060hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3846899
hg1946792
hg1846792
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5055n100
Supporting Variantsnssv3619337, nssv3619334, nssv3619347, nssv3619335, nssv3619353, nssv3619349, nssv3619340, nssv3737929, nssv3619361, nssv3619328, nssv3619339, nssv3619360, nssv3619342, nssv3619330, nssv3619358, nssv3619336, nssv3619338, nssv3619354, nssv3619356, nssv3619346, nssv3619362, nssv3619348, nssv3619332, nssv3619365, nssv3619351, nssv3619350, nssv3619345, nssv3619344, nssv3619359, nssv3619326, nssv3619367, nssv3619363, nssv3619355, nssv3619329, nssv3619357, nssv3619369, nssv3619366, nssv3619364, nssv3619331, nssv3619352, nssv3619343, nssv3619333, nssv3619327, nssv3619341, nssv3619368
Samples
Known GenesZNF595, ZNF718
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999411
Frequency
Sample Size29084
Observed Gain37
Observed Loss8
Observed Complex0
Frequencyn/a


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