A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv652647



Internal ID15389299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231185174..231186197hg38UCSC Ensembl
Innerchr1:231320920..231321943hg19UCSC Ensembl
Innerchr1:229387543..229388566hg18UCSC Ensembl
Innerchr1:227627655..227628678hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381024
hg191024
hg181024
hg171024
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517116
Supporting Variants
Samples
Known GenesLOC149373, TRIM67
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv652647
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