A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608990



Internal ID16049713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:150264185..151010400hg38UCSC Ensembl
Innerchr7:149961274..150707488hg19UCSC Ensembl
Innerchr7:149592207..150338421hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38746216
hg19746215
hg18746215
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1099477
Samples
Known GenesACTR3C, AOC1, GIMAP1, GIMAP1-GIMAP5, GIMAP2, GIMAP4, GIMAP5, GIMAP6, GIMAP7, GIMAP8, KCNH2, LINC00996, LOC728743, LRRC61, NOS3, RARRES2, REPIN1, RNU6-33P, RNU6-34P, TMEM176A, TMEM176B, ZBED6CL, ZNF775
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608990
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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