A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7071



Internal ID15552044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:124483920..124515111hg38UCSC Ensembl
OuterchrX:123617770..123648961hg19UCSC Ensembl
OuterchrX:123445451..123476642hg18UCSC Ensembl
OuterchrX:123343305..123374496hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg388558
hg198558
hg188558
hg178558
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3825
SamplesNA12878
Known GenesTENM1
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)nsv7071
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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