A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586892



Internal ID18538487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232372602..232429517hg38UCSC Ensembl
Innerchr2:233237312..233294227hg19UCSC Ensembl
Innerchr2:232945556..233002471hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3856916
hg1956916
hg1856916
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1007866
Supporting Variants
Samples
Known GenesALPP, ALPPL2, ECEL1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3586892
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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