A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701607



Internal ID15091573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:72820579..73090312hg38UCSC Ensembl
Innerchr5:72116406..72386139hg19UCSC Ensembl
Innerchr5:72152162..72421895hg18UCSC Ensembl
Innerchr5:72152162..72421895hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38269734
hg19269734
hg18269734
hg17269734
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525479
Supporting Variants
Samples
Known GenesFCHO2, MIR4804, TNPO1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701607
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