A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4513



Internal ID15192554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237651204..237659923hg38UCSC Ensembl
Outerchr2:238559847..238568566hg19UCSC Ensembl
Outerchr2:238224586..238233305hg18UCSC Ensembl
Outerchr2:238341847..238350566hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385701
hg195701
hg185701
hg175701
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3230
Supporting Variants
SamplesNA12878
Known GenesLRRFIP1
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)nssv4513
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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