A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3991166



Internal ID18889890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75463125..75463182hg38UCSC Ensembl
Outerchr17:73459206..73459263hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138579
Supporting Variants
SamplesKWS2
Known GenesKIAA0195
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3991166
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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