A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv933661



Internal ID15880931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237540474..237545188hg38UCSC Ensembl
Innerchr2:238449117..238453831hg19UCSC Ensembl
Innerchr2:238113856..238118570hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg384715
hg194715
hg184715
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584732
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)nssv933661
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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