A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582122



Internal ID16022845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:61692252..62020316hg38UCSC Ensembl
Innerchr2:61919387..62247451hg19UCSC Ensembl
Innerchr2:61772891..62100955hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38328065
hg19328065
hg18328065
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150463
SamplesHGDP01371
Known GenesCCT4, COMMD1, FAM161A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582122
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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