A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3494319



Internal ID18735274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:164512003..165096756hg38UCSC Ensembl
Innerchr1:164481240..165065993hg19UCSC Ensembl
Innerchr1:162747864..163332617hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38584754
hg19584754
hg18584754
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011090
Supporting Variants
Samples
Known GenesLOC100505795, PBX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3494319
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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