A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3972515



Internal ID18899291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:31505627..31505687hg38UCSC Ensembl
Outerchr17:29832645..29832705hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1134638
Supporting Variants
SamplesKWS2
Known GenesRAB11FIP4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3972515
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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