A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031807



Internal ID18774341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69779138..71358233hg38UCSC Ensembl
Innerchr5:69074965..70654060hg19UCSC Ensembl
Innerchr5:69110721..70689816hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381579096
hg191579096
hg181579096
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5695n100
Supporting Variantsnssv3641047, nssv3641049, nssv3641045, nssv3641046, nssv3641048
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, LOC647859, NAIP, 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)nsv1031807
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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