A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3995191



Internal ID18864318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161317674..161317728hg38UCSC Ensembl
Outerchr1:161287464..161287518hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144410
Supporting Variants
SamplesKWS1
Known GenesSDHC
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3995191
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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