A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1131048



Internal ID18926177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121626395..121626795hg38UCSC Ensembl
Outerchr12:122064300..122064700hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3966730, nssv3984562
SamplesKWS2, KWS1
Known GenesORAI1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1131048
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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