A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6978



Internal ID15551941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:82334458..82379215hg38UCSC Ensembl
OuterchrX:81589907..81634664hg19UCSC Ensembl
OuterchrX:81476563..81521320hg18UCSC Ensembl
OuterchrX:81396052..81440809hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3844758
hg1944758
hg1844758
hg1744758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8746
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)nsv6978
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer