A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5212



Internal ID15544029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:41732231..41736311hg38UCSC Ensembl
OuterchrX:41591484..41595564hg19UCSC Ensembl
OuterchrX:41476428..41480508hg18UCSC Ensembl
OuterchrX:41347738..41351818hg17UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg386894
hg196894
hg186894
hg176894
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6875
Supporting Variants
SamplesNA19129
Known GenesCASK
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)nssv5212
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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