A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2778



Internal ID15200655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:73369144..73388010hg38UCSC Ensembl
Outerchr2:73596272..73615138hg19UCSC Ensembl
Outerchr2:73449780..73468646hg18UCSC Ensembl
Outerchr2:73507927..73526793hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3818867
hg1918867
hg1818867
hg1718867
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7507
SamplesNA12156
Known GenesALMS1
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)nsv2778
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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