A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2770



Internal ID15547333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:70732771..70766672hg38UCSC Ensembl
Outerchr2:70959903..70993804hg19UCSC Ensembl
Outerchr2:70813411..70847312hg18UCSC Ensembl
Outerchr2:70871558..70905459hg17UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg385380
hg195380
hg185380
hg175380
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5792
SamplesNA19129
Known GenesADD2
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)nsv2770
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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