A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3501



Internal ID15191543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:167194524..167211554hg38UCSC Ensembl
Outerchr1:167163761..167180791hg19UCSC Ensembl
Outerchr1:165430385..165447415hg18UCSC Ensembl
Outerchr1:163895419..163912449hg17UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg384978
hg194978
hg184978
hg174978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3421
Supporting Variants
SamplesNA12878
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)nssv3501
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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