A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516881



Internal ID15444174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:192236902..192245934hg38UCSC Ensembl
Innerchr1:192206032..192215064hg19UCSC Ensembl
Innerchr1:190472655..190481687hg18UCSC Ensembl
Innerchr1:188937689..188946721hg17UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg389033
hg199033
hg189033
hg179033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv654658, nssv693366, nssv678838, nssv680901, nssv683874
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516881
Frequency
Sample Size2026
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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