A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv344



Internal ID15548049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:33468214..33489408hg38UCSC Ensembl
Outerchr1:33933815..33955008hg19UCSC Ensembl
Outerchr1:33706402..33727595hg18UCSC Ensembl
Outerchr1:33602908..33624101hg17UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg3816807
hg1916807
hg1816807
hg1716807
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9819, nssv1070
SamplesNA18507, NA19240
Known GenesZSCAN20
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)nsv344
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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