A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113531



Internal ID18915125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:122525791..122526120hg38UCSC Ensembl
Outerchr12:123010338..123010667hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968833
SamplesKWS2
Known GenesRSRC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113531
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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