A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134241



Internal ID19284715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:75107651..75107712hg38UCSC Ensembl
Outerchr12:75501431..75501492hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971723
SamplesKWS2
Known GenesKCNC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134241
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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