A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115717



Internal ID19264161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113328922..113329022hg38UCSC Ensembl
Outerchr13:113983237..113983337hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977525
SamplesKWS1
Known GenesGRTP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115717
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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