A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1035988



Internal ID19125207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33246118..33546428hg38UCSC Ensembl
Innerchr12:33399053..33699363hg19UCSC Ensembl
Innerchr12:33290320..33590630hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38300311
hg19300311
hg18300311
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3503216
Samples
Known GenesSYT10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1035988
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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