A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135797



Internal ID18929747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124373736..124373864hg38UCSC Ensembl
Outerchr12:124858282..124858410hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989385
SamplesKWS2
Known GenesNCOR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135797
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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