A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002225



Internal ID18744757
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 gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4183n100
Supporting Variantsnssv3586874, nssv3586875
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)nsv1002225
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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