A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv668165



Internal ID15058131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227847430..227850423hg38UCSC Ensembl
Innerchr1:228035131..228038124hg19UCSC Ensembl
Innerchr1:226101754..226104747hg18UCSC Ensembl
Innerchr1:224341866..224344859hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg382994
hg192994
hg182994
hg172994
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516409
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv668165
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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