A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702789



Internal ID15439441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:183963325..183969068hg38UCSC Ensembl
Innerchr1:183932459..183938202hg19UCSC Ensembl
Innerchr1:182199082..182204825hg18UCSC Ensembl
Innerchr1:180664116..180669859hg17UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg385744
hg195744
hg185744
hg175744
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526480
Supporting Variants
Samples
Known GenesCOLGALT2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702789
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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