A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030016



Internal ID18772547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:126553411..126636590hg38UCSC Ensembl
Innerchr5:125889103..125972282hg19UCSC Ensembl
Innerchr5:125917002..126000181hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3883180
hg1983180
hg1883180
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648097
Samples
Known GenesALDH7A1, C5orf48, PHAX
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030016
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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