A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7534



Internal ID15536330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:104079133..104112898hg38UCSC Ensembl
Outerchr2:104695591..104729356hg19UCSC Ensembl
Outerchr2:104062023..104095788hg18UCSC Ensembl
Outerchr2:104154109..104187874hg17UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg385666
hg195666
hg185666
hg175666
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2860
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)nssv7534
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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