A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976427



Internal ID18896397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206193730..206267852hg38UCSC Ensembl
Outerchr1:206073500..206147600hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3874123
hg1974101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115377
Supporting Variants
SamplesKWS2
Known GenesFAM72A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976427
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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