A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997053



Internal ID18844940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46398162..46610318hg38UCSC Ensembl
Outerchr10:46939299..47151600hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38212157
hg19212302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152446
Supporting Variants
SamplesKWB1
Known GenesGPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, SYT15
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997053
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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