A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3607027



Internal ID18905308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130070370..130125697hg38UCSC Ensembl
Innerchr3:129789213..129844540hg19UCSC Ensembl
Innerchr3:131271903..131327230hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3855328
hg1955328
hg1855328
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000223
Supporting Variants
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)nssv3607027
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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