A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034024



Internal ID18776558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69464444..69822296hg38UCSC Ensembl
Innerchr5:68760271..69118123hg19UCSC Ensembl
Innerchr5:68796027..69153879hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38357853
hg19357853
hg18357853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3747235
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, LOC100272216, LOC647859, OCLN, SMA4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034024
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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