A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055650



Internal ID19144869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15603003..15922838hg38UCSC Ensembl
Innerchr22:16055171..16374960hg19UCSC Ensembl
Innerchr22:14435171..14754960hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38319836
hg19319790
hg18319790
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4451n100
Supporting Variantsnssv3600374, nssv3600367, nssv3600371, nssv3600369, nssv3600380, nssv3733470, nssv3600368, nssv3600381, nssv3600375, nssv3600382, nssv3733471, nssv3600376, nssv3600385, nssv3600379, nssv3600373, nssv3600383, nssv3600372, nssv3600384, nssv3600386, nssv3600370, nssv3600377, nssv3600378
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)nsv1055650
Frequency
Sample Size11257
Observed Gain19
Observed Loss3
Observed Complex0
Frequencyn/a


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