A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003722



Internal ID19092940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130072235..130124358hg38UCSC Ensembl
Innerchr3:129791078..129843201hg19UCSC Ensembl
Innerchr3:131273768..131325891hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3852124
hg1952124
hg1852124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4894n100
Supporting Variantsnssv3607045
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)nsv1003722
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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