A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv675688



Internal ID15065654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227732360..227780237hg38UCSC Ensembl
Innerchr1:227920061..227967938hg19UCSC Ensembl
Innerchr1:225986684..226034561hg18UCSC Ensembl
Innerchr1:224226796..224274673hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3847878
hg1947878
hg1847878
hg1747878
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)nssv675688
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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