A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7030



Internal ID15551999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:107538611..107572795hg38UCSC Ensembl
OuterchrX:106781841..106816025hg19UCSC Ensembl
OuterchrX:106668497..106702681hg18UCSC Ensembl
OuterchrX:106587986..106622170hg17UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg385253
hg195253
hg185253
hg175253
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8760
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)nsv7030
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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