A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006094



Internal ID18748625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12269..62222hg38UCSC Ensembl
Innerchr4:12269..62114hg19UCSC Ensembl
Innerchr4:2269..52114hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3849954
hg1949846
hg1849846
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5055n100
Supporting Variantsnssv3619384, nssv3619409, nssv3619428, nssv3619421, nssv3619433, nssv3619397, nssv3737948, nssv3737934, nssv3619415, nssv3619406, nssv3737932, nssv3619431, nssv3619381, nssv3737952, nssv3619389, nssv3619437, nssv3619400, nssv3619380, nssv3619426, nssv3619398, nssv3737953, nssv3619414, nssv3737939, nssv3619391, nssv3619423, nssv3619394, nssv3619416, nssv3737946, nssv3619376, nssv3619436, nssv3619434, nssv3619405, nssv3619387, nssv3619401, nssv3737954, nssv3619432, nssv3737950, nssv3619377, nssv3737942, nssv3619413, nssv3619382, nssv3619379, nssv3619399, nssv3619425, nssv3737951, nssv3619383, nssv3619385, nssv3737947, nssv3619435, nssv3619395, nssv3619407, nssv3737943, nssv3737941, nssv3619412, nssv3737931, nssv3619386, nssv3619388, nssv3619418, nssv3619393, nssv3619402, nssv3619408, nssv3619422, nssv3737936, nssv3619375, nssv3619417, nssv3737937, nssv3737945, nssv3619404, nssv3737944, nssv3619390, nssv3619392, nssv3619378, nssv3737935, nssv3619410, nssv3619420, nssv3619396, nssv3619429, nssv3619403, nssv3619424, nssv3737930, nssv3737940, nssv3737949, nssv3619430, nssv3619419, nssv3619411, nssv3619427, nssv3737938, nssv3737933
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)nsv1006094
Frequency
Sample Size29084
Observed Gain75
Observed Loss13
Observed Complex0
Frequencyn/a


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