A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999512



Internal ID19159049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:104008042..104101935hg38UCSC Ensembl
Innerchr1:104550664..104644557hg19UCSC Ensembl
Innerchr1:104352187..104446080hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3893894
hg1993894
hg1893894
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv230n100
Supporting Variantsnssv3701132
Samples
Known GenesLOC100129138
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999512
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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