A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517709



Internal ID15098316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:817186..1275912hg38UCSC Ensembl
Innerchr1:752566..1211292hg19UCSC Ensembl
Innerchr1:742429..1201155hg18UCSC Ensembl
Innerchr1:792429..1251215hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38458727
hg19458727
hg18458727
hg17458787
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv668090, nssv662132, nssv667239, nssv654371, nssv662754, nssv700902, nssv691743, nssv658652, nssv677935, nssv677805, nssv652918, nssv681209, nssv657472, nssv688100, nssv670683, nssv680332, nssv683576, nssv669544, nssv660727
Samples
Known GenesAGRN, B3GALT6, C1orf159, C1orf170, FAM132A, FAM41C, FAM87B, HES4, ISG15, KLHL17, LINC00115, LINC01128, LOC100130417, LOC254099, MIR200A, MIR200B, MIR429, NOC2L, PLEKHN1, RNF223, SAMD11, SDF4, TNFRSF18, TNFRSF4, TTLL10, UBE2J2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517709
Frequency
Sample Size2026
Observed Gain18
Observed Loss1
Observed Complex0
Frequencyn/a


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