A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142076



Internal ID18928873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:178190116..178190236hg38UCSC Ensembl
Outerchr1:178159251..178159371hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993584
SamplesKWS2
Known GenesRASAL2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142076
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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