A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126148



Internal ID19259437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:16527412..16533587hg38UCSC Ensembl
Outerchr17:16430726..16436901hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg386176
hg196176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984364
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126148
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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