A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005016



Internal ID18747547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94662150..95248719hg38UCSC Ensembl
Innerchr2:95327875..95914467hg19UCSC Ensembl
Innerchr2:94691602..95278194hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38586570
hg19586593
hg18586593
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4007n100
Supporting Variantsnssv3579541
Samples
Known GenesANKRD20A8P, FAM95A, LOC442028, MAL, MRPS5, TEKT4, ZNF2, ZNF514
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005016
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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