A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3467512



Internal ID19062348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45723586..45997340hg38UCSC Ensembl
Innerchr1:46189258..46463012hg19UCSC Ensembl
Innerchr1:45961845..46235599hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38273755
hg19273755
hg18273755
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009355
Supporting Variants
Samples
Known GenesIPP, MAST2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3467512
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer