A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113468



Internal ID18910100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:26358087..26358419hg38UCSC Ensembl
Outerchr12:26511020..26511352hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv785n106
Supporting Variantsnssv3988488, nssv3990661
SamplesKWS1, KWS2
Known GenesITPR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113468
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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