A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013547



Internal ID19102765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:84588112..84680244hg38UCSC Ensembl
Innerchr2:84815236..84907368hg19UCSC Ensembl
Innerchr2:84668747..84760879hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3892133
hg1992133
hg1892133
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582166
Samples
Known GenesDNAH6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013547
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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