A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008734



Internal ID19097951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:242011715..242147293hg38UCSC Ensembl
Innerchr2:242953866..243089444hg19UCSC Ensembl
Innerchr2:242602539..242738117hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38135579
hg19135579
hg18135579
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4210n100
Supporting Variantsnssv3589820, nssv3589824, nssv3730356, nssv3589821, nssv3589829, nssv3589817, nssv3589825, nssv3589816, nssv3589830, nssv3730363, nssv3589815, nssv3730358, nssv3730359, nssv3589826, nssv3589832, nssv3730360, nssv3589835, nssv3589823, nssv3730361, nssv3730362, nssv3730364, nssv3589834, nssv3589831, nssv3589833, nssv3589819, nssv3730357, nssv3730354, nssv3589822, nssv3730355, nssv3589828, nssv3589818, nssv3589827, nssv3730353
Samples
Known GenesLOC728323
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008734
Frequency
Sample Size11257
Observed Gain2
Observed Loss31
Observed Complex0
Frequencyn/a


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