A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv906



Internal ID15198064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:119920556..119938506hg38UCSC Ensembl
OuterchrX:119054519..119072469hg19UCSC Ensembl
OuterchrX:118938547..118956497hg18UCSC Ensembl
OuterchrX:118836401..118854351hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3823004
hg1923004
hg1823004
hg1723004
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7059
Supporting Variants
SamplesNA19240
Known GenesAKAP14, NKAP
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)nssv906
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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