A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7100



Internal ID15205390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:133329176..133363684hg38UCSC Ensembl
OuterchrX:132463204..132497712hg19UCSC Ensembl
OuterchrX:132290870..132325378hg18UCSC Ensembl
OuterchrX:132188724..132223232hg17UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg385513
hg195513
hg185513
hg175513
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2840
SamplesNA18555
Known GenesGPC4
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)nsv7100
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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