A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3241n100



Internal ID22789328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46186703..46619139hg38UCSC Ensembl
chr17:44264069..44696505hg19UCSC Ensembl
chr17:41619846..42051821hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38432437
hg19432437
hg18431976
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1067407, nsv1056641, nsv1064248, nsv1058999, nsv1064161, nsv1062464, nsv1056023, nsv1060975
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)dgv3241n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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