A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2608



Internal ID15200485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:11770570..11779293hg38UCSC Ensembl
Outerchr2:11910696..11919419hg19UCSC Ensembl
Outerchr2:11828147..11836870hg18UCSC Ensembl
Outerchr2:11861294..11870017hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg387822
hg197822
hg187822
hg177822
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6817
SamplesNA12156
Known GenesLPIN1
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)nsv2608
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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