A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010845



Internal ID19100062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130047484..130109235hg38UCSC Ensembl
Innerchr3:129766327..129828078hg19UCSC Ensembl
Innerchr3:131249017..131310768hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3861752
hg1961752
hg1861752
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4869n100
Supporting Variantsnssv3603015, nssv3603014
Samples
Known GenesALG1L2, FAM86HP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010845
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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