A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6374



Internal ID15537489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:129881870..129905545hg38UCSC Ensembl
OuterchrX:129015846..129039521hg19UCSC Ensembl
OuterchrX:128843527..128867202hg18UCSC Ensembl
OuterchrX:128741381..128765056hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg386931
hg196931
hg186931
hg176931
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7089
Supporting Variants
SamplesNA12156
Known Genes
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)nssv6374
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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