A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219



Internal ID15547806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:234628501..234656475hg38UCSC Ensembl
Outerchr2:235537145..235565119hg19UCSC Ensembl
Outerchr2:235201884..235229858hg18UCSC Ensembl
Outerchr2:235319145..235347119hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3827975
hg1927975
hg1827975
hg1727975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6914
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)nsv3219
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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