A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6893



Internal ID15205162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:48778273..48810147hg38UCSC Ensembl
OuterchrX:48636688..48668554hg19UCSC Ensembl
OuterchrX:48521632..48553498hg18UCSC Ensembl
OuterchrX:48392936..48424803hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg387623
hg197623
hg187623
hg177623
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10702
SamplesNA18956
Known GenesGATA1, HDAC6
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)nsv6893
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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