A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139510



Internal ID18935026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:180867164..180870964hg38UCSC Ensembl
Outerchr1:180836300..180840100hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg383801
hg193801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977098
SamplesKWS2
Known GenesXPR1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139510
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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