A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126125



Internal ID18924790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:140419236..141917668hg38UCSC Ensembl
Outerchr8:141429335..142999029hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381498433
hg191569695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984333
SamplesKWS1
Known GenesAGO2, CHRAC1, DENND3, GPR20, LOC731779, MROH5, PTK2, PTP4A3, SLC45A4, TRAPPC9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126125
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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