A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1954



Internal ID15194551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:22898305..22930158hg38UCSC Ensembl
Outerchr1:23224798..23256651hg19UCSC Ensembl
Outerchr1:23097385..23129238hg18UCSC Ensembl
Outerchr1:22970104..23001957hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg388145
hg198145
hg188145
hg178145
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6409
Supporting Variants
SamplesNA18555
Known GenesEPHB2
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)nssv1954
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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