A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008312



Internal ID19097530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:99210576..99234905hg38UCSC Ensembl
Innerchr3:98929420..98953749hg19UCSC Ensembl
Innerchr3:100412110..100436439hg18UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg3824330
hg1924330
hg1824330
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4825n100
Supporting Variantsnssv3603463, nssv3603462, nssv3603461
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008312
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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