A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981621



Internal ID18868255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:182793312..182793912hg38UCSC Ensembl
Outerchr3:182511100..182511700hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1145007
Supporting Variants
SamplesKWS1
Known GenesATP11B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981621
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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