A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5697n100



Internal ID20157313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69550464..71095414hg38UCSC Ensembl
chr5:68846291..70391241hg19UCSC Ensembl
chr5:68882047..70426997hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381544951
hg191544951
hg181544951
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1016777, nsv1031087, nsv1017671, nsv1029570, nsv1032364, nsv1032840, nsv1025105
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)dgv5697n100
Frequency
Sample Size29084
Observed Gain139
Observed Loss170
Observed Complex0
Frequencyn/a


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