A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3702092



Internal ID19000373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148934526..149000235hg38UCSC Ensembl
Innerchr1:144884237..144949963hg19UCSC Ensembl
Innerchr1:143595594..143661320hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3865710
hg1965727
hg1865727
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000251
Supporting Variants
Samples
Known GenesLOC100288142, NBPF12, NBPF9, PDE4DIP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3702092
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