A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10205



Internal ID15542593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:3171502..3184554hg38UCSC Ensembl
Outerchr2:3175273..3188325hg19UCSC Ensembl
Outerchr2:3154280..3167332hg18UCSC Ensembl
Outerchr2:4713556..4726608hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3812382
hg1912382
hg1812382
hg1712382
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2581
Supporting Variants
SamplesNA18956
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)nssv10205
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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