A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119150



Internal ID19265542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:222895466..222897973hg38UCSC Ensembl
Outerchr2:223760184..223762691hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382508
hg192508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2156n106
Supporting Variantsnssv3981956
SamplesKWS1
Known GenesACSL3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119150
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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