A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048501



Internal ID18791032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:72481579..72861027hg38UCSC Ensembl
Innerchr9:75096495..75475943hg19UCSC Ensembl
Innerchr9:74286315..74665763hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38379449
hg19379449
hg18379449
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3696358
Samples
Known GenesTMC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048501
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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