A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv58n100



Internal ID19010426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16583102..16660344hg38UCSC Ensembl
chr1:16909597..16986839hg19UCSC Ensembl
chr1:16782184..16859426hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3877243
hg1977243
hg1877243
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000320, nsv1013966, nsv1006493, nsv1004735, nsv1003821
Samples
Known GenesCROCCP2, MST1P2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv58n100
Frequency
Sample Size29084
Observed Gain14
Observed Loss16
Observed Complex0
Frequencyn/a


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