A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv706069



Internal ID15096035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227732360..227747743hg38UCSC Ensembl
Innerchr1:227920061..227935444hg19UCSC Ensembl
Innerchr1:225986684..226002067hg18UCSC Ensembl
Innerchr1:224226796..224242179hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3815384
hg1915384
hg1815384
hg1715384
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515496
Supporting Variants
Samples
Known GenesJMJD4, LOC100130093, SNAP47
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv706069
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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