A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3524755



Internal ID18476350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84785807..85354129hg38UCSC Ensembl
Innerchr12:85179586..85747907hg19UCSC Ensembl
Innerchr12:83703717..84272038hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38568323
hg19568322
hg18568322
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1040452
Supporting Variants
Samples
Known GenesALX1, LRRIQ1, SLC6A15, TSPAN19
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3524755
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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