A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv672480



Internal ID15062446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:151807701..151844596hg38UCSC Ensembl
Innerchr1:151780177..151817072hg19UCSC Ensembl
Innerchr1:150046801..150083696hg18UCSC Ensembl
Innerchr1:148593250..148630145hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3836896
hg1936896
hg1836896
hg1736896
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516369
Supporting Variants
Samples
Known GenesC2CD4D, LOC100132111, RORC
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv672480
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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