A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3607



Internal ID15538335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:967076..994941hg38UCSC Ensembl
Outerchr8:917076..944941hg19UCSC Ensembl
Outerchr8:907076..932348hg18UCSC Ensembl
Outerchr8:907076..932348hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg388515
hg198515
hg188515
hg178515
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6039
Supporting Variants
SamplesNA12878
Known GenesERICH1-AS1
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)nssv3607
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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