A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127257



Internal ID18915388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29570834..29570888hg38UCSC Ensembl
Outerchr12:29723767..29723821hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985653
SamplesKWS1
Known GenesTMTC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127257
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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