A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052862



Internal ID19142081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:45001..94474hg38UCSC Ensembl
Innerchr12:150430..203640hg19UCSC Ensembl
Innerchr12:20691..73901hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3849474
hg1953211
hg1853211
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1325n100
Supporting Variantsnssv3503951, nssv3514970, nssv3522355, nssv3512002, nssv3514128, nssv3503020, nssv3517911, nssv3508043, nssv3507731, nssv3710803, nssv3507650, nssv3511059
Samples
Known GenesIQSEC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052862
Frequency
Sample Size11257
Observed Gain5
Observed Loss7
Observed Complex0
Frequencyn/a


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