A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6949



Internal ID15205223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:70037194..70070943hg38UCSC Ensembl
OuterchrX:69257044..69290793hg19UCSC Ensembl
OuterchrX:69173769..69207518hg18UCSC Ensembl
OuterchrX:69040065..69073814hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg385679
hg195679
hg185679
hg175679
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8738
SamplesNA12156
Known GenesAWAT2, EDA, OTUD6A
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)nsv6949
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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