A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1131294



Internal ID19259307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:5132852..5132919hg38UCSC Ensembl
Outerchr17:5036147..5036214hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971090
SamplesKWS1
Known GenesUSP6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1131294
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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