A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2999



Internal ID8514546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155232164..155235295hg38UCSC Ensembl
Outerchr1:155201955..155205086hg19UCSC Ensembl
Outerchr1:153468579..153471710hg18UCSC Ensembl
Outerchr1:152015028..152018159hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3820871
hg1920871
hg1820871
hg1720871
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4714
SamplesNA19129
Known GenesGBA
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)nsv2999
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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