A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7122



Internal ID15552100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:140603408..140648211hg38UCSC Ensembl
OuterchrX:139685573..139730376hg19UCSC Ensembl
OuterchrX:139513239..139558042hg18UCSC Ensembl
OuterchrX:139411093..139455896hg17UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg3844804
hg1944804
hg1844804
hg1744804
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8794
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)nsv7122
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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