A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6857



Internal ID15205122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:34635451..34669487hg38UCSC Ensembl
OuterchrX:34653568..34687604hg19UCSC Ensembl
OuterchrX:34563489..34597525hg18UCSC Ensembl
OuterchrX:34413225..34447261hg17UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg385395
hg195395
hg185395
hg175395
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8706
SamplesNA12156
Known GenesTMEM47
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)nsv6857
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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