A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6984



Internal ID15551948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:85196603..85219544hg38UCSC Ensembl
OuterchrX:84451609..84474550hg19UCSC Ensembl
OuterchrX:84338265..84361206hg18UCSC Ensembl
OuterchrX:84257754..84280695hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg387150
hg197150
hg187150
hg177150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1847
SamplesNA18555
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)nsv6984
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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