A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046231



Internal ID18788762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8249238..8451181hg38UCSC Ensembl
Innerchr12:8401834..8603777hg19UCSC Ensembl
Innerchr12:8293101..8495044hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38201944
hg19201944
hg18201944
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1360n100
Supporting Variantsnssv3708241
Samples
Known GenesLINC00937
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046231
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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