A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv175n100



Internal ID20151791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66577437..66601436hg38UCSC Ensembl
chr1:67043120..67067119hg19UCSC Ensembl
chr1:66815708..66839707hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3824000
hg1924000
hg1824000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003016, nsv1013476
Samples
Known GenesSGIP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv175n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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