A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998989



Internal ID18844696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:74748162..74776554hg38UCSC Ensembl
Outerchr7:74162499..74190900hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3828393
hg1928402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151807
Supporting Variants
SamplesKWB1
Known GenesGTF2I, NCF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998989
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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