A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521800



Internal ID8416075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:227256431..227302828hg38UCSC Ensembl
Innerchr2:228121147..228167544hg19UCSC Ensembl
Innerchr2:227829391..227875788hg18UCSC Ensembl
Innerchr2:227946652..227993049hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3846398
hg1946398
hg1846398
hg1746398
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694570
Samples
Known GenesCOL4A3, LOC654841
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521800
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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