A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3464



Internal ID15538192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:162817665..162853075hg38UCSC Ensembl
Outerchr1:162787455..162822865hg19UCSC Ensembl
Outerchr1:161054079..161089489hg18UCSC Ensembl
Outerchr1:159519113..159554523hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg384312
hg194312
hg184312
hg174312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3310
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)nssv3464
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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