A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017985



Internal ID19107202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12130205..12585534hg38UCSC Ensembl
Innerchr8:11987714..12443043hg19UCSC Ensembl
Innerchr8:12025123..12487414hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38455330
hg19455330
hg18462292
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7026n100
Supporting Variantsnssv3754279, nssv3681876, nssv3681884, nssv3681877, nssv3754283, nssv3681866, nssv3681870, nssv3681869, nssv3681872, nssv3681885, nssv3681867, nssv3681865, nssv3681863, nssv3681879, nssv3681882, nssv3681862, nssv3681861, nssv3681886, nssv3754280, nssv3681873, nssv3681864, nssv3681868, nssv3681878, nssv3754285, nssv3754286, nssv3681874, nssv3681881, nssv3754282, nssv3681880, nssv3681871, nssv3681883, nssv3681875, nssv3754284, nssv3754281
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC649352, LOC729732, USP17L2, USP17L7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017985
Frequency
Sample Size11257
Observed Gain29
Observed Loss5
Observed Complex0
Frequencyn/a


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