A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620960



Internal ID15820311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:140687757..140732295hg38UCSC Ensembl
OuterchrX:139769922..139814460hg19UCSC Ensembl
OuterchrX:139597588..139642126hg18UCSC Ensembl
OuterchrX:139495442..139539980hg17UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg384662
hg194662
hg184662
hg174662
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508804
Supporting Variants
SamplesNA15510
Known GenesLINC00632
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)nssv620960
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer