A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv654895



Internal ID15391547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196853900..196893439hg38UCSC Ensembl
Innerchr1:196823030..196862569hg19UCSC Ensembl
Innerchr1:195089653..195129192hg18UCSC Ensembl
Innerchr1:193554687..193594226hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3839540
hg1939540
hg1839540
hg1739540
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517662
Supporting Variants
Samples
Known GenesCFHR4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv654895
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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