A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7488



Internal ID15552502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:91396533..91430108hg38UCSC Ensembl
Outerchr10:93156290..93189865hg19UCSC Ensembl
Outerchr10:93146270..93179845hg18UCSC Ensembl
Outerchr10:93146270..93179845hg17UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg386442
hg196442
hg186442
hg176442
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2849
SamplesNA18555
Known GenesHECTD2, LOC100188947
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)nsv7488
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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