A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998610



Internal ID19187676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:211686523..211686820hg38UCSC Ensembl
Outerchr2:212551248..212551545hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149825
Supporting Variants
SamplesKWB1
Known GenesERBB4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998610
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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