A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141507



Internal ID19248731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:6293867..6300467hg38UCSC Ensembl
Outerchr6:6294100..6300700hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg386601
hg196601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993013
SamplesKWS2
Known GenesF13A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141507
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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