A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700004



Internal ID15089970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225786075..226022952hg38UCSC Ensembl
Innerchr1:225973777..226210653hg19UCSC Ensembl
Innerchr1:224040400..224277276hg18UCSC Ensembl
Innerchr1:222280512..222517388hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38236878
hg19236877
hg18236877
hg17236877
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524126
Supporting Variants
Samples
Known GenesEPHX1, LEFTY1, LEFTY2, MIR6741, PYCR2, SDE2, SRP9, TMEM63A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700004
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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