A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704172



Internal ID15440824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:88946889..88951449hg38UCSC Ensembl
Innerchr5:88242706..88247266hg19UCSC Ensembl
Innerchr5:88278462..88283022hg18UCSC Ensembl
Innerchr5:88278462..88283022hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg384561
hg194561
hg184561
hg174561
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527694
Supporting Variants
Samples
Known GenesMEF2C-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704172
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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