A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006423



Internal ID19095640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:195861190..195905777hg38UCSC Ensembl
Innerchr1:195830320..195874907hg19UCSC Ensembl
Innerchr1:194096943..194141530hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3844588
hg1944588
hg1844588
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv502n100
Supporting Variantsnssv3704881, nssv3704884, nssv3500352, nssv3704882, nssv3497244, nssv3704885, nssv3489380, nssv3497666, nssv3704883
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)nsv1006423
Frequency
Sample Size11257
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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