A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111423



Internal ID18912311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:168055327..168056519hg38UCSC Ensembl
Outerchr1:168024565..168025757hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381193
hg191193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv219n106
Supporting Variantsnssv3963557
SamplesKWS2
Known GenesDCAF6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111423
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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