A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517355



Internal ID15097962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:68111716..68116316hg38UCSC Ensembl
Innerchr1:68577399..68581999hg19UCSC Ensembl
Innerchr1:68349987..68354587hg18UCSC Ensembl
Innerchr1:68289420..68294020hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg384601
hg194601
hg184601
hg174601
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695869, nssv688322, nssv670773, nssv677762, nssv679887, nssv679212, nssv676840, nssv678266, nssv687389, nssv690120, nssv685631, nssv677716, nssv658373, nssv675437, nssv678466, nssv682691, nssv666740, nssv673300, nssv701342, nssv669618, nssv658487, nssv669270, nssv673553, nssv669543, nssv651879, nssv653232, nssv652333, nssv681325, nssv658667, nssv684789, nssv672344, nssv672613, nssv654659, nssv651805, nssv667280, nssv654685
Samples
Known GenesGNG12-AS1, WLS
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517355
Frequency
Sample Size2026
Observed Gain2
Observed Loss35
Observed Complex0
Frequencyn/a


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