A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2597



Internal ID15540518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:163658330..163690096hg38UCSC Ensembl
Outerchr1:163628061..163659824hg19UCSC Ensembl
Outerchr1:161894685..161926448hg18UCSC Ensembl
Outerchr1:160359719..160391482hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg388242
hg198242
hg188242
hg178242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3343
Supporting Variants
SamplesNA18555
Known Genes
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)nssv2597
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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