A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1155993



Internal ID22086498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:771719..969227hg38UCSC Ensembl
Outerchr1:690090..983193hg38UCSC Ensembl
Innerchr1:707099..904607hg19UCSC Ensembl
Outerchr1:625470..918573hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38293104
hg19293104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1n97
Supporting Variantsnssv4017629
Samples
Known GenesC1orf170, FAM41C, FAM87B, KLHL17, LINC00115, LINC01128, LOC100130417, LOC100133331, LOC100288069, NOC2L, PLEKHN1, SAMD11
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1155993
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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