A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005075



Internal ID19094292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:158217042..158243307hg38UCSC Ensembl
Innerchr2:159073554..159099819hg19UCSC Ensembl
Innerchr2:158781800..158808065hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3826266
hg1926266
hg1826266
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582978
Samples
Known GenesCCDC148, CCDC148-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005075
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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