A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990343



Internal ID18890415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:179222513..179222580hg38UCSC Ensembl
Outerchr1:179191648..179191715hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1137825
Supporting Variants
SamplesKWS2
Known GenesABL2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990343
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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