A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6890



Internal ID15551845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:47968293..48168190hg38UCSC Ensembl
OuterchrX:47827692..48027618hg19UCSC Ensembl
OuterchrX:47712636..47912562hg18UCSC Ensembl
OuterchrX:47583946..47783872hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38199898
hg19199927
hg18199927
hg17199927
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv863, nssv5218
SamplesNA19240, NA19129
Known GenesSPACA5, SPACA5B, SSX6, ZNF182, ZNF630
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)nsv6890
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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