A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984580



Internal ID18876205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:32449263..32452463hg38UCSC Ensembl
Outerchr13:33023400..33026600hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg383201
hg193201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126340
Supporting Variants
SamplesKWS1
Known GenesN4BP2L2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984580
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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