A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122813



Internal ID18911941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:44388291..44388342hg38UCSC Ensembl
Outerchr13:44962427..44962478hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968869, nssv3985742
SamplesKWS1, KWS2
Known GenesSERP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122813
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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