A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134588



Internal ID18906267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:3958709..3958781hg38UCSC Ensembl
Outerchr17:3862003..3862075hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972469
SamplesKWS2
Known GenesATP2A3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134588
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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