A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130929



Internal ID19259898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:85745616..85869780hg38UCSC Ensembl
Outerchr8:86757845..86882009hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38124165
hg19124165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3856n106
Supporting Variantsnssv3967629
SamplesKWS2
Known GenesREXO1L1, REXO1L2P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130929
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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