A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2772



Internal ID15547335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:71703859..71737915hg38UCSC Ensembl
Outerchr2:71930989..71965045hg19UCSC Ensembl
Outerchr2:71784497..71818553hg18UCSC Ensembl
Outerchr2:71842644..71876700hg17UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg385384
hg195384
hg185384
hg175384
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7505
SamplesNA12156
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)nsv2772
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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