A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122816



Internal ID19269057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:48395084..48417263hg38UCSC Ensembl
Outerchr13:48969220..48991399hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3822180
hg1922180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971407, nssv3983339
SamplesKWS2, KWS1
Known GenesLPAR6, RB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122816
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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