A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130286



Internal ID18917218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6055407..6055905hg38UCSC Ensembl
Outerchr10:6097370..6097868hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38499
hg19499
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv352n106
Supporting Variantsnssv3964773, nssv3964041
SamplesKWS2, KWS1
Known GenesIL2RA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130286
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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