A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143454



Internal ID18908256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:145217719..145253846hg38UCSC Ensembl
Outerchr1:144342600..144376400hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3836128
hg1933801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv172n106
Supporting Variantsnssv3980656
SamplesKWS1
Known GenesLOC100288142, PPIAL4A, PPIAL4B, PPIAL4C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143454
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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