A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124375



Internal ID18901166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:124093709..124093761hg38UCSC Ensembl
Outerchr8:125105950..125106002hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976097, nssv3958806
SamplesKWS1, KWS2
Known GenesFER1L6, FER1L6-AS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124375
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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