A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126427



Internal ID19250471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8449544..8449834hg38UCSC Ensembl
Outerchr19:8514428..8514718hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1708n106
Supporting Variantsnssv3984674
SamplesKWS1
Known GenesHNRNPM
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126427
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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