A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960506



Internal ID19221322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:58728828..58731428hg38UCSC Ensembl
Outerchr1:59194500..59197100hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg382601
hg192601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128595
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960506
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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