A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067248



Internal ID19156467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15591361..15922838hg38UCSC Ensembl
Innerchr22:16055171..16386602hg19UCSC Ensembl
Innerchr22:14435171..14766602hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38331478
hg19331432
hg18331432
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4451n100
Supporting Variantsnssv3600417, nssv3600414, nssv3600398, nssv3600390, nssv3600394, nssv3600404, nssv3600411, nssv3600421, nssv3600420, nssv3733477, nssv3600397, nssv3600388, nssv3600405, nssv3600431, nssv3600399, nssv3600423, nssv3600407, nssv3600403, nssv3600418, nssv3600412, nssv3600425, nssv3600408, nssv3600416, nssv3600402, nssv3600389, nssv3600396, nssv3600406, nssv3733476, nssv3600413, nssv3600426, nssv3600415, nssv3600422, nssv3600427, nssv3600419, nssv3600428, nssv3600395, nssv3600409, nssv3600393, nssv3600392, nssv3600391, nssv3600429, nssv3600410, nssv3600432, nssv3733473, nssv3600424, nssv3733472, nssv3600400, nssv3600401, nssv3600387, nssv3733474, nssv3600433, nssv3733475, nssv3600430
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)nsv1067248
Frequency
Sample Size11257
Observed Gain48
Observed Loss5
Observed Complex0
Frequencyn/a


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