A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3051



Internal ID15547622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:177328708..177374666hg38UCSC Ensembl
Outerchr2:178193436..178239394hg19UCSC Ensembl
Outerchr2:177901682..177947640hg18UCSC Ensembl
Outerchr2:178018943..178064901hg17UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3845959
hg1945959
hg1845959
hg1745959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6887
SamplesNA12156
Known GenesLOC100130691
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)nsv3051
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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