A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989781



Internal ID18881557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:108214852..108215452hg38UCSC Ensembl
Outerchr13:108867200..108867800hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136174
Supporting Variants
SamplesKWS2
Known GenesLIG4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989781
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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