A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696854



Internal ID15086820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:33084858..33089853hg38UCSC Ensembl
Innerchr2:33309925..33314920hg19UCSC Ensembl
Innerchr2:33163429..33168424hg18UCSC Ensembl
Innerchr2:33221576..33226571hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg384996
hg194996
hg184996
hg174996
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516173
Supporting Variants
Samples
Known GenesLTBP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696854
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