A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9845n54



Internal ID20143269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69958474..71041981hg38UCSC Ensembl
chr5:69254301..70337808hg19UCSC Ensembl
chr5:69290057..70373564hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381083508
hg191083508
hg181083508
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598485, nsv598496, nsv598499, nsv598501, nsv598487, nsv598498, nsv598497, nsv598500, nsv598486
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, NAIP, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9845n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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