A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980813



Internal ID18867101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:233327254..233328654hg38UCSC Ensembl
Outerchr1:233463000..233464400hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118149
Supporting Variants
SamplesKWS1
Known GenesKIAA1804
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980813
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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