A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020464



Internal ID18762999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42488526..42699292hg38UCSC Ensembl
Innerchr5:42488628..42699394hg19UCSC Ensembl
Innerchr5:42524385..42735151hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38210767
hg19210767
hg18210767
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3637104, nssv3637103
Samples
Known GenesGHR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020464
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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