A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111948



Internal ID18922771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:31332573..31332923hg38UCSC Ensembl
Outerchr17:29659591..29659941hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1455n106
Supporting Variantsnssv3954551, nssv3964396
SamplesKWS2, KWS1
Known GenesNF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111948
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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