A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6987



Internal ID15551951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:86892978..86925038hg38UCSC Ensembl
OuterchrX:86147981..86180041hg19UCSC Ensembl
OuterchrX:86034637..86066697hg18UCSC Ensembl
OuterchrX:85954126..85986186hg17UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg387688
hg197688
hg187688
hg177688
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3807
SamplesNA12878
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)nsv6987
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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