A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2875



Internal ID15200752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:110110097..110154879hg38UCSC Ensembl
Outerchr2:110867674..110912456hg19UCSC Ensembl
Outerchr2:110224963..110269745hg18UCSC Ensembl
Outerchr2:110225049..110269831hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3844783
hg1944783
hg1844783
hg1744783
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7539
SamplesNA12156
Known GenesMALL, NPHP1
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)nsv2875
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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