A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606050



Internal ID16046773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:8140025..8485077hg38UCSC Ensembl
Innerchr7:8179655..8524707hg19UCSC Ensembl
Innerchr7:8146180..8491232hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38345053
hg19345053
hg18345053
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11178n54
Supporting Variantsnssv1155153
Samples1780862599_A
Known GenesICA1, NXPH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606050
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