A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3251



Internal ID15537979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:41511419..41543577hg38UCSC Ensembl
Outerchr4:41513436..41545594hg19UCSC Ensembl
Outerchr4:41208193..41240351hg18UCSC Ensembl
Outerchr4:41354364..41386522hg17UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg387588
hg197588
hg187588
hg177588
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4309
Supporting Variants
SamplesNA12878
Known GenesLIMCH1
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)nssv3251
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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