A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1418919



Internal ID15582703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:21495751..21546251hg38UCSC Ensembl
OuterchrY:23657637..23708137hg19UCSC Ensembl
OuterchrY:22067025..22117525hg18UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3850501
hg1950501
hg1850501
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv819669
Supporting Variants
SamplesAK1
Known GenesRBMY1A1, RBMY1B, RBMY1D, RBMY1E
MethodSequencing
AnalysisInsertions in AK1 genome were identified by BAC end sequencing and confirmed by whole genome GA sequencing.
PlatformGPL10329
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)nssv1418919
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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