A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144794



Internal ID19267165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:18509486..18562486hg38UCSC Ensembl
Outerchr17:18412800..18465800hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3853001
hg1953001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981389
SamplesKWS1
Known GenesCCDC144B, FAM106A, USP32P2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144794
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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