A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052647



Internal ID19141866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52042..147054hg38UCSC Ensembl
Innerchr12:161208..256220hg19UCSC Ensembl
Innerchr12:31469..126481hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3895013
hg1995013
hg1895013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1329n100
Supporting Variantsnssv3515080
Samples
Known GenesIQSEC3, LOC574538
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052647
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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