A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055888



Internal ID19145107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15533098..15890342hg38UCSC Ensembl
Innerchr22:16087621..16444865hg19UCSC Ensembl
Innerchr22:14467621..14824865hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38357245
hg19357245
hg18357245
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4451n100
Supporting Variantsnssv3731772, nssv3589228
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)nsv1055888
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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