A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112708



Internal ID18921721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45308634..45500034hg38UCSC Ensembl
Outerchr17:43386000..43577400hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38191401
hg19191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1472n106
Supporting Variantsnssv3967195
SamplesKWS2
Known GenesARHGAP27, MAP3K14, MIR4315-1, MIR4315-2, PLEKHM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112708
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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