A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005814



Internal ID19095031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:214640362..214682554hg38UCSC Ensembl
Innerchr2:215505086..215547278hg19UCSC Ensembl
Innerchr2:215213331..215255523hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3842193
hg1942193
hg1842193
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4172n100
Supporting Variantsnssv3729353, nssv3585683, nssv3585684, nssv3585685
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)nsv1005814
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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