A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999214



Internal ID19158750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216461872..216478505hg38UCSC Ensembl
Innerchr1:216635214..216651847hg19UCSC Ensembl
Innerchr1:214701837..214718470hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3816634
hg1916634
hg1816634
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv576n100
Supporting Variantsnssv3705511, nssv3502149, nssv3705510
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999214
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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