A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3198n100



Internal ID22789285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46103588..46707300hg38UCSC Ensembl
chr17:44180954..44784666hg19UCSC Ensembl
chr17:41536766..42139849hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38603713
hg19603713
hg18603084
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1058776, nsv1059344, nsv1063967, nsv1057456, nsv1065768, nsv1066732, nsv1060779, nsv1059881, nsv1056909, nsv1058670, nsv1057144, nsv1059907, nsv1066120, nsv1064745, nsv1059333, nsv1062584, nsv1066910, nsv1060449, nsv1060362, nsv1062205, nsv1058386, nsv1066431, nsv1063714, nsv1059943, nsv1060919, nsv1066065, nsv1056169, nsv1061150, nsv1066502, nsv1058097, nsv1063549, nsv1058225, nsv1066551, nsv1065339, nsv1059617, nsv1060588, nsv1056204, nsv1062283, nsv1061368, nsv1063525, nsv1056397, nsv1062104, nsv1064366, nsv1057993
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)dgv3198n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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