A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699622



Internal ID15089588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186347356..186358404hg38UCSC Ensembl
Innerchr1:186316488..186327536hg19UCSC Ensembl
Innerchr1:184583111..184594159hg18UCSC Ensembl
Innerchr1:183048145..183059193hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3811049
hg1911049
hg1811049
hg1711049
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523794
Supporting Variants
Samples
Known GenesMIR548F1, TPR
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699622
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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