A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv924



Internal ID15544929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:144597179..144624303hg38UCSC Ensembl
OuterchrX:143678700..143705824hg19UCSC Ensembl
OuterchrX:143486341..143513468hg18UCSC Ensembl
OuterchrX:143384195..143411322hg17UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg386585
hg196585
hg186585
hg176585
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7133
Supporting Variants
SamplesNA19240
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)nssv924
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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