A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5695n100



Internal ID20157311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69508307..71365369hg38UCSC Ensembl
chr5:68804134..70661196hg19UCSC Ensembl
chr5:68839890..70696952hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381857063
hg191857063
hg181857063
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1031985, nsv1031807, nsv1033315, nsv1019685, nsv1027495, nsv1021974, nsv1025283, nsv1030188
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, LOC647859, NAIP, OCLN, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5695n100
Frequency
Sample Size29084
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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