A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516706



Internal ID15443999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:138801791..138809843hg38UCSC Ensembl
Innerchr7:138486536..138494588hg19UCSC Ensembl
Innerchr7:138137076..138145128hg18UCSC Ensembl
Innerchr7:137943791..137951843hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg388053
hg198053
hg188053
hg178053
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv670297, nssv655196, nssv656417, nssv681675
Samples
Known GenesTMEM213
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516706
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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