A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv803380



Internal ID15750650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119989016..119990664hg38UCSC Ensembl
Innerchr12:120426820..120428468hg19UCSC Ensembl
Innerchr12:118911203..118912851hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381649
hg191649
hg181649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560424
Supporting Variants
Samples
Known GenesCCDC64
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv803380
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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