A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6823



Internal ID8518753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:18962408..18996460hg38UCSC Ensembl
OuterchrX:18980526..19014578hg19UCSC Ensembl
OuterchrX:18890447..18924499hg18UCSC Ensembl
OuterchrX:18740183..18774235hg17UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg385373
hg195373
hg185373
hg175373
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8695
SamplesNA12156
Known GenesGPR64, PHKA2
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)nsv6823
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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