A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110431



Internal ID19264703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:140286846..140289046hg38UCSC Ensembl
Outerchr4:141208000..141210200hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg382201
hg192201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2912n106
Supporting Variantsnssv3960082
SamplesKWS1
Known GenesLOC100129858, SCOC
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110431
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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