A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977069



Internal ID19235454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:75477515..75480115hg38UCSC Ensembl
Outerchr1:75943200..75945800hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382601
hg192601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139481
Supporting Variants
SamplesKWS2
Known GenesSLC44A5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977069
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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