A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065110



Internal ID19154329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15533098..15875556hg38UCSC Ensembl
Innerchr22:16102407..16444865hg19UCSC Ensembl
Innerchr22:14482407..14824865hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38342459
hg19342459
hg18342459
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4451n100
Supporting Variantsnssv3589252, nssv3731775, nssv3589249, nssv3589235, nssv3589245, nssv3589243, nssv3589248, nssv3589262, nssv3589246, nssv3589255, nssv3589232, nssv3589244, nssv3731776, nssv3589264, nssv3589258, nssv3589260, nssv3589231, nssv3589251, nssv3589237, nssv3731777, nssv3589253, nssv3589257, nssv3589247, nssv3589263, nssv3589234, nssv3589236, nssv3589241, nssv3589259, nssv3589238, nssv3589240, nssv3589254, nssv3589256, nssv3589250, nssv3589265, nssv3589239, nssv3589261, nssv3589242, nssv3589233
Samples
Known GenesBMS1P17, BMS1P18, POTEH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065110
Frequency
Sample Size11257
Observed Gain16
Observed Loss22
Observed Complex0
Frequencyn/a


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