A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4085



Internal ID15192126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31425809..31435281hg38UCSC Ensembl
Outerchr1:31898656..31908128hg19UCSC Ensembl
Outerchr1:31671243..31680715hg18UCSC Ensembl
Outerchr1:31567749..31577221hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg389514
hg199514
hg189514
hg179514
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7712
Supporting Variants
SamplesNA12878
Known GenesSERINC2
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)nssv4085
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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