A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556916



Internal ID15997639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:757691..764839hg38UCSC Ensembl
Innerchr12:866857..874005hg19UCSC Ensembl
Innerchr12:737118..744266hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387149
hg197149
hg187149
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2259n54
Supporting Variantsnssv785960, nssv786063, nssv785981, nssv785950, nssv785982, nssv785972, nssv786053, nssv785958, nssv785964, nssv786049, nssv785959, nssv785998, nssv785983, nssv786016, nssv785995, nssv786020, nssv786028, nssv786001, nssv786058, nssv786042, nssv786039, nssv786060, nssv785962, nssv786010, nssv785955, nssv786022, nssv785966, nssv785974, nssv786055, nssv785956, nssv786019, nssv785999, nssv785976, nssv786033, nssv786040, nssv785973, nssv786030, nssv785978, nssv786015, nssv785987, nssv785991, nssv785988, nssv785963, nssv786004, nssv785997, nssv786008, nssv786045, nssv786026, nssv785975, nssv785989, nssv785985, nssv786000, nssv786038, nssv785954, nssv785965, nssv785979, nssv786027, nssv785968, nssv786032, nssv786047, nssv786043, nssv785993, nssv786002, nssv785967, nssv786024, nssv786035, nssv786034, nssv785970, nssv786062, nssv785951, nssv786048, nssv786005, nssv786036, nssv785953, nssv785957, nssv786064, nssv786057, nssv786059, nssv786029, nssv785984, nssv786009, nssv785986, nssv786012, nssv786061, nssv786052, nssv785992, nssv786056, nssv786003, nssv786011, nssv785961, nssv786037, nssv786013, nssv786017, nssv785980, nssv785977, nssv785952, nssv786018, nssv785969, nssv786054, nssv786031, nssv786050, nssv786044, nssv785990, nssv785994, nssv786006, nssv786046, nssv785971, nssv786007, nssv786025, nssv786021, nssv786014, nssv786041, nssv786023, nssv785996, nssv786051
Samples
Known GenesWNK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556916
Frequency
Sample Size17421
Observed Gain0
Observed Loss115
Observed Complex0
Frequencyn/a


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