A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051099



Internal ID19140318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7842179..7970629hg38UCSC Ensembl
Innerchr12:7994775..8123225hg19UCSC Ensembl
Innerchr12:7886042..8014492hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38128451
hg19128451
hg18128451
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1355n100
Supporting Variantsnssv3708098, nssv3511861, nssv3708099, nssv3514179, nssv3515987, nssv3513151, nssv3509937, nssv3522321, nssv3708112, nssv3708110, nssv3514412, nssv3708092, nssv3520195, nssv3510183, nssv3708111, nssv3708093, nssv3505778, nssv3708102, nssv3708100, nssv3513328, nssv3513408, nssv3520335, nssv3511747, nssv3513981, nssv3503961, nssv3520818, nssv3505504, nssv3509971, nssv3708097, nssv3506599, nssv3708096, nssv3514401, nssv3522616, nssv3708101, nssv3512484, nssv3508498, nssv3508012, nssv3516633, nssv3506992, nssv3517127, nssv3708109, nssv3516596, nssv3508911, nssv3517705, nssv3521047, nssv3521679, nssv3708090, nssv3517820, nssv3520253, nssv3507151, nssv3509432, nssv3519997, nssv3516279, nssv3519561, nssv3708105, nssv3506138, nssv3518604, nssv3708103, nssv3512113, nssv3708091, nssv3515760, nssv3708113, nssv3508892, nssv3708095, nssv3512593, nssv3708094, nssv3708104, nssv3503174, nssv3517269, nssv3515861, nssv3509580, nssv3708106, nssv3510998, nssv3506091, nssv3708108, nssv3708107, nssv3511211, nssv3505327
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051099
Frequency
Sample Size11257
Observed Gain72
Observed Loss6
Observed Complex0
Frequencyn/a


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