A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142937



Internal ID18922425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:35095577..35095676hg38UCSC Ensembl
Outerchr19:35586481..35586580hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962417, nssv3993767
SamplesKWS1, KWS2
Known GenesHPN-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142937
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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