A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517381



Internal ID15097988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108825322..108843844hg38UCSC Ensembl
Innerchr1:109367944..109386466hg19UCSC Ensembl
Innerchr1:109169467..109187989hg18UCSC Ensembl
Innerchr1:109079986..109098508hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3818523
hg1918523
hg1818523
hg1718523
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv668325, nssv654880, nssv684418, nssv677315, nssv675068, nssv693128, nssv680313, nssv677839, nssv654981, nssv692506, nssv651861, nssv687426, nssv669266, nssv654796, nssv667589, nssv678932, nssv677956, nssv691765, nssv688606, nssv699178, nssv685328, nssv686059, nssv680529, nssv668838, nssv659552, nssv706005, nssv655959
Samples
Known GenesAKNAD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517381
Frequency
Sample Size2026
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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