A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4505



Internal ID15192546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219173471..219201899hg38UCSC Ensembl
Outerchr2:220038193..220066621hg19UCSC Ensembl
Outerchr2:219746437..219774865hg18UCSC Ensembl
Outerchr2:219863698..219892126hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3828429
hg1928429
hg1828429
hg1728429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3170
Supporting Variants
SamplesNA12878
Known GenesCNPPD1, FAM134A
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)nssv4505
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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