A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600835



Internal ID18552430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33702431..33800698hg38UCSC Ensembl
Innerchr22:34098417..34196685hg19UCSC Ensembl
Innerchr22:32428417..32526685hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3898268
hg1998269
hg1898269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1055203
Supporting Variants
Samples
Known GenesLARGE, LARGE-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600835
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