A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700319



Internal ID15090285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:168039960..168062473hg38UCSC Ensembl
Innerchr6:168440640..168463153hg19UCSC Ensembl
Innerchr6:168183489..168206002hg18UCSC Ensembl
Innerchr6:168259196..168281709hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3822514
hg1922514
hg1822514
hg1722514
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515568
Supporting Variants
Samples
Known GenesFRMD1, KIF25
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700319
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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