A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122716



Internal ID19264985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:32529333..32529388hg38UCSC Ensembl
Outerchr12:32682267..32682322hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971304
SamplesKWS2
Known GenesFGD4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122716
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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