A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120002



Internal ID19285760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:21158122..21159898hg38UCSC Ensembl
Outerchr13:21732261..21734037hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg381777
hg191777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983019
SamplesKWS1
Known GenesSKA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120002
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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