A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125145



Internal ID19247719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:1589507..1603607hg38UCSC Ensembl
OuterchrY:1658400..1672500hg19UCSC Ensembl
CytobandYp11.32
Allele length
AssemblyAllele length
hg3814101
hg1914101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977951
SamplesKWS2
Known GenesAKAP17A, ASMT
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125145
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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