A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060383



Internal ID19149602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15578843..15922838hg38UCSC Ensembl
Innerchr22:16055171..16399120hg19UCSC Ensembl
Innerchr22:14435171..14779120hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38343996
hg19343950
hg18343950
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4451n100
Supporting Variantsnssv3587612, nssv3733488, nssv3733482, nssv3587604, nssv3587617, nssv3733494, nssv3587616, nssv3733496, nssv3733499, nssv3587600, nssv3587607, nssv3733497, nssv3587592, nssv3587615, nssv3587599, nssv3587609, nssv3587620, nssv3587619, nssv3733501, nssv3733490, nssv3587622, nssv3587601, nssv3587606, nssv3587595, nssv3587623, nssv3587618, nssv3733492, nssv3733493, nssv3587627, nssv3733491, nssv3733483, nssv3733487, nssv3587593, nssv3733503, nssv3733498, nssv3733500, nssv3733486, nssv3587621, nssv3587596, nssv3733502, nssv3587591, nssv3587624, nssv3587626, nssv3587614, nssv3587610, nssv3587611, nssv3587605, nssv3733495, nssv3587625, nssv3733489, nssv3587608, nssv3587603, nssv3733504, nssv3733485, nssv3587613, nssv3587597, nssv3733484, nssv3587602, nssv3587594, nssv3587598
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)nsv1060383
Frequency
Sample Size11257
Observed Gain48
Observed Loss12
Observed Complex0
Frequencyn/a


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