A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110223



Internal ID19253631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:94372446..94375946hg38UCSC Ensembl
Outerchr13:95024700..95028200hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg383501
hg193501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1015n106
Supporting Variantsnssv3959492
SamplesKWS1
Known GenesGPC6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110223
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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