A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517330



Internal ID15444623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:94662990..94687706hg38UCSC Ensembl
Innerchr1:95128546..95153262hg19UCSC Ensembl
Innerchr1:94901134..94925850hg18UCSC Ensembl
Innerchr1:94840567..94865283hg17UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3824717
hg1924717
hg1824717
hg1724717
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv693954, nssv676041, nssv652159, nssv689057, nssv674890, nssv667439, nssv690090, nssv682512, nssv674073, nssv653383, nssv671038, nssv663391, nssv673773, nssv665818, nssv668801, nssv659108, nssv651765, nssv687433, nssv682479, nssv692602, nssv689497, nssv651736, nssv679707, nssv676921, nssv686522, nssv684295, nssv679672, nssv676310, nssv683852, nssv669860, nssv688252
Samples
Known GenesLINC01057
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517330
Frequency
Sample Size2026
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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