A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977060



Internal ID18880856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13336634..13367078hg38UCSC Ensembl
Outerchr1:13442200..13472700hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3830445
hg1930501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139473
Supporting Variants
SamplesKWS2
Known GenesPRAMEF13
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977060
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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