A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516891



Internal ID15444184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:120463497..120470601hg38UCSC Ensembl
Innerchr2:121221073..121228177hg19UCSC Ensembl
Innerchr2:120937543..120944647hg18UCSC Ensembl
Innerchr2:120937303..120944407hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg387105
hg197105
hg187105
hg177105
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv654728, nssv680202, nssv656513
Samples
Known GenesLINC01101
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516891
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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