A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3985993



Internal ID18865275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:235803007..235803103hg38UCSC Ensembl
Outerchr2:236711651..236711747hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1131562
Supporting Variants
SamplesKWS1
Known GenesAGAP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3985993
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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