A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3196n100



Internal ID20154812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46099606..46674922hg38UCSC Ensembl
chr17:44176972..44752288hg19UCSC Ensembl
chr17:41532785..42107467hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38575317
hg19575317
hg18574683
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057635, nsv1065391, nsv1067229, nsv1066600, nsv1065641, nsv1063378, nsv1060117, nsv1058858, nsv1058978, nsv1056273, nsv1066917, nsv1064576, nsv1055962, nsv1067304, nsv1062888, nsv1061172, nsv1056934, nsv1057994, nsv1055476, nsv1066835, nsv1058939, nsv1064891, nsv1061035, nsv1058880, nsv1062086, nsv1060979, nsv1064988, nsv1055428, nsv1055160, nsv1064408, nsv1059483, nsv1065679, nsv1057959, nsv1060613, nsv1066722, nsv1067212, nsv1056640, nsv1064264, nsv1058232, nsv1065785
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3196n100
Frequency
Sample Size29084
Observed Gain287
Observed Loss206
Observed Complex0
Frequencyn/a


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