A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3467449



Internal ID18715628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39718220..39846262hg38UCSC Ensembl
Innerchr1:40183892..40311934hg19UCSC Ensembl
Innerchr1:39956479..40084521hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38128043
hg19128043
hg18128043
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009306
Supporting Variants
Samples
Known GenesBMP8B, OXCT2, PPIE, TRIT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3467449
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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