A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700131



Internal ID15090097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152511653..152515952hg38UCSC Ensembl
Innerchr1:152484129..152488428hg19UCSC Ensembl
Innerchr1:150750753..150755052hg18UCSC Ensembl
Innerchr1:149297202..149301501hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg384300
hg194300
hg184300
hg174300
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524241
Supporting Variants
Samples
Known GenesCRCT1, LCE5A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700131
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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