A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3966654



Internal ID19234089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120951674..120964017hg38UCSC Ensembl
Outerchr1:149615000..149630600hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3812344
hg1915601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112554
Supporting Variants
SamplesKWS2
Known GenesLINC00623, LINC00869
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3966654
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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