A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121929



Internal ID19271270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:7017681..7021081hg38UCSC Ensembl
Outerchr17:6921000..6924400hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg383401
hg193401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968595
SamplesKWS2
Known GenesMIR195, MIR497, MIR497HG
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121929
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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