A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2937



Internal ID15200814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:134133432..134165986hg38UCSC Ensembl
Outerchr2:134891003..134923557hg19UCSC Ensembl
Outerchr2:134607473..134640027hg18UCSC Ensembl
Outerchr2:134724735..134757289hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg386876
hg196876
hg186876
hg176876
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6871
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)nsv2937
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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