A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112121



Internal ID18903180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:25529642..25529783hg38UCSC Ensembl
Outerchr6:25529870..25530011hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3291n106
Supporting Variantsnssv3989226, nssv3970000
SamplesKWS2, KWS1
Known GenesLRRC16A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112121
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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