A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623618



Internal ID15475505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:155334673..155403782hg38UCSC Ensembl
OuterchrX:154563982..154633443hg19UCSC Ensembl
OuterchrX:154217176..154286637hg18UCSC Ensembl
OuterchrX:154127686..154197147hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg383162
hg193162
hg183162
hg173162
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508817
Supporting Variants
SamplesNA18994
Known GenesCLIC2, F8A1, F8A2, F8A3, H2AFB1, H2AFB2, H2AFB3, MIR1184-1, MIR1184-2, MIR1184-3, TMLHE-AS1
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)nssv623618
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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