A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8378



Internal ID15188800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:55045323..55070844hg38UCSC Ensembl
Outerchr7:55113016..55138537hg19UCSC Ensembl
Outerchr7:55080510..55106031hg18UCSC Ensembl
Outerchr7:54887225..54912746hg17UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg386136
hg196136
hg186136
hg176136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5753
Supporting Variants
SamplesNA12156
Known GenesEGFR
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv8378
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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