A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125252



Internal ID19281979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:6932340..6932435hg38UCSC Ensembl
Outerchr6:6932573..6932668hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983423
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125252
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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