A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999391



Internal ID18812241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:190884309..191057205hg38UCSC Ensembl
Innerchr2:191749035..191921931hg19UCSC Ensembl
Innerchr2:191457280..191630176hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38172897
hg19172897
hg18172897
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729307
Samples
Known GenesGLS, STAT1, STAT4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999391
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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