A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv933657



Internal ID15880927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237516361..237518310hg38UCSC Ensembl
Innerchr2:238425004..238426953hg19UCSC Ensembl
Innerchr2:238089743..238091692hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381950
hg191950
hg181950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584729
Supporting Variants
Samples
Known GenesMLPH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv933657
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