A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118596



Internal ID18901766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:44822032..44847032hg38UCSC Ensembl
Outerchr17:42899400..42924400hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3825001
hg1925001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959109
SamplesKWS1
Known GenesGJC1, HIGD1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118596
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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