A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586874



Internal ID18538469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232346988..232429517hg38UCSC Ensembl
Innerchr2:233211698..233294227hg19UCSC Ensembl
Innerchr2:232919942..233002471hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3882530
hg1982530
hg1882530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1002225
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)nssv3586874
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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