A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118759



Internal ID19271695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:44218832..44220232hg38UCSC Ensembl
Outerchr17:42296200..42297600hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1469n106
Supporting Variantsnssv3981069
SamplesKWS1
Known GenesUBTF
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118759
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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