A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4704



Internal ID15196310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155211384..155216261hg38UCSC Ensembl
Outerchr1:155181175..155186052hg19UCSC Ensembl
Outerchr1:153447799..153452676hg18UCSC Ensembl
Outerchr1:151994248..151999125hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3820016
hg1920016
hg1820016
hg1720016
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2988
Supporting Variants
SamplesNA19129
Known GenesGBAP1, MTX1
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)nssv4704
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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