A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998862



Internal ID18844849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:16397074..16401575hg38UCSC Ensembl
Outerchr7:16436699..16441200hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg384502
hg194502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150076
Supporting Variants
SamplesKWB1
Known GenesISPD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998862
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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