A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586890



Internal ID18538485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232363002..232442126hg38UCSC Ensembl
Innerchr2:233227712..233306836hg19UCSC Ensembl
Innerchr2:232935956..233015080hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3879125
hg1979125
hg1879125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000007
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)nssv3586890
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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