A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560554



Internal ID16001277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124540246..124541865hg38UCSC Ensembl
Innerchr12:125024792..125026411hg19UCSC Ensembl
Innerchr12:123590745..123592364hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381620
hg191620
hg181620
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2939n54
Supporting Variantsnssv803951, nssv803932, nssv803934, nssv803936, nssv803938, nssv803939, nssv803940, nssv803937, nssv803943, nssv803923, nssv803922, nssv803931, nssv803930, nssv803942, nssv803929, nssv803953, nssv803949, nssv803950, nssv803945, nssv803944, nssv803948, nssv803921, nssv803925, nssv803933, nssv803952, nssv803946, nssv803947, nssv803928, nssv803927, nssv803941, nssv803924, nssv803956, nssv803955, nssv803954, nssv803935, nssv803926
Samples
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560554
Frequency
Sample Size17421
Observed Gain27
Observed Loss9
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer