A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514214



Internal ID15812631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56674005..56678077hg38UCSC Ensembl
Innerchr4:57540171..57544243hg19UCSC Ensembl
Innerchr4:57234928..57239000hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg384073
hg194073
hg184073
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2908476, nssv2901447, nssv2908493, nssv2908488, nssv2901451, nssv2908482, nssv2908479, nssv2908492, nssv2908486, nssv2908494, nssv2908487, nssv2908474, nssv2908477, nssv2908485, nssv2908489, nssv2908481, nssv2908480, nssv2901449, nssv2908490, nssv2901448, nssv2901452, nssv2908484, nssv2908478, nssv2908491, nssv2901450, nssv2908475, nssv2908483
SamplesNA19141, NA19249, NA18855, NA18935, NA19145, NA18486, NA19192, NA18489, NA19198, NA19197, NA19130, NA19199, NA19209, NA19247, NA19194, NA18933, NA19184, NA19236, NA19142, NA19132, NA19240, NA19144, NA19193, NA19182, NA19211, NA19121, NA19224
Known GenesHOPX
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514214
Frequency
Sample Size2366
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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