A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122223



Internal ID19283730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:61089441..61092049hg38UCSC Ensembl
Outerchr9:43866000..43868600hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg382609
hg192601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969666
SamplesKWS2
Known GenesCNTNAP3B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122223
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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