A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5696n100



Internal ID19016064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69533194..71366819hg38UCSC Ensembl
chr5:68829021..70662646hg19UCSC Ensembl
chr5:68864777..70698402hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381833626
hg191833626
hg181833626
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1021688, nsv1021204, nsv1022460, nsv1028880, nsv1015830, nsv1024212
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)dgv5696n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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