A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130616



Internal ID18904741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137879158..137882742hg38UCSC Ensembl
Outerchr9:140773610..140777194hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg383585
hg193585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4184n106
Supporting Variantsnssv3975092, nssv3965903
SamplesKWS2, KWS1
Known GenesCACNA1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130616
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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