A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129330



Internal ID18910868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41084536..41140152hg38UCSC Ensembl
Outerchr17:39240788..39296404hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3855617
hg1955617
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962763
SamplesKWS1
Known GenesKRTAP4-11, KRTAP4-12, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP4-9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129330
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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