A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1531



Internal ID15199408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:50225808..50257078hg38UCSC Ensembl
Outerchr15:50518005..50549275hg19UCSC Ensembl
Outerchr15:48305297..48336567hg18UCSC Ensembl
Outerchr15:48305297..48336567hg17UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg388156
hg198156
hg188156
hg178156
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6632
SamplesNA12156
Known GenesHDC, SLC27A2
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)nsv1531
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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