A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3037



Internal ID15200920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:173190146..173223386hg38UCSC Ensembl
Outerchr2:174054874..174088114hg19UCSC Ensembl
Outerchr2:173763120..173796360hg18UCSC Ensembl
Outerchr2:173880381..173913621hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg386510
hg196510
hg186510
hg176510
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4480
SamplesNA12878
Known GenesMLK7-AS1, ZAK
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)nsv3037
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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