A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6822



Internal ID15537041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:22947844..22973212hg38UCSC Ensembl
Outerchr2:23170716..23196084hg19UCSC Ensembl
Outerchr2:23024221..23049589hg18UCSC Ensembl
Outerchr2:23082368..23107736hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg388703
hg198703
hg188703
hg178703
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2636
Supporting Variants
SamplesNA12156
Known Genes
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)nssv6822
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer