A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2824



Internal ID15547387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:88765384..89198441hg38UCSC Ensembl
Outerchr2:89064901..89497929hg19UCSC Ensembl
Outerchr2:88846016..89279044hg18UCSC Ensembl
Outerchr2:88904163..89337191hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38433058
hg19433029
hg18433029
hg17433029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1514, nssv10220, nssv1513, nssv2275, nssv7524, nssv2273, nssv5802, nssv6856, nssv5803, nssv9572, nssv6854, nssv4434, nssv11014, nssv7523
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA18555, NA19240, NA19129
Known GenesANKRD36BP2, MIR4436A
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)nsv2824
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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