A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4496



Internal ID15192537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:205681544..205714569hg38UCSC Ensembl
Outerchr2:206546268..206579293hg19UCSC Ensembl
Outerchr2:206254513..206287538hg18UCSC Ensembl
Outerchr2:206371774..206404799hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg386720
hg196720
hg186720
hg176720
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3123
Supporting Variants
SamplesNA12878
Known GenesNRP2
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)nssv4496
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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