A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980804



Internal ID19224357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196799570..196833670hg38UCSC Ensembl
Outerchr1:196768700..196802800hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3834101
hg1934101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118141
Supporting Variants
SamplesKWS1
Known GenesCFHR1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980804
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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