A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623623



Internal ID15475510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:22418319..22493478hg38UCSC Ensembl
OuterchrY:24564466..24639625hg19UCSC Ensembl
OuterchrY:22973854..23049013hg18UCSC Ensembl
OuterchrY:22902591..22977750hg17UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg384821
hg194821
hg184821
hg174821
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508822
Supporting Variants
SamplesNA18994
Known GenesPRY, PRY2, TTTY6, TTTY6B
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv623623
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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