A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980811



Internal ID19211579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:230425654..230426554hg38UCSC Ensembl
Outerchr1:230561400..230562300hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118148
Supporting Variants
SamplesKWS1
Known GenesPGBD5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980811
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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