A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704741



Internal ID15441393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:222474435..222474863hg38UCSC Ensembl
Innerchr2:223339154..223339582hg19UCSC Ensembl
Innerchr2:223047398..223047826hg18UCSC Ensembl
Innerchr2:223164659..223165087hg17UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38429
hg19429
hg18429
hg17429
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528185
Supporting Variants
Samples
Known GenesSGPP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704741
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