A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001201



Internal ID19194720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:44031700..44038801hg38UCSC Ensembl
Outerchr7:44071299..44078400hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg387102
hg197102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153284
Supporting Variants
SamplesKWB1
Known GenesRASA4CP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001201
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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