A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1172588



Internal ID15531938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3145797..3188066hg38UCSC Ensembl
Innerchr1:3062361..3104630hg19UCSC Ensembl
Innerchr1:3052221..3094490hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3842270
hg1942270
hg1842270
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545100
Supporting Variants
SamplesHGDP01234
Known GenesPRDM16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1172588
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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