A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135420



Internal ID18910222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:112398026..112398364hg38UCSC Ensembl
Outerchr10:114157784..114158122hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv517n106
Supporting Variantsnssv3982796, nssv3966222
SamplesKWS2, KWS1
Known GenesACSL5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135420
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer