A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137589



Internal ID19278506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:103234853..103237453hg38UCSC Ensembl
Outerchr7:102875300..102877900hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382601
hg192601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985080, nssv3990092
SamplesKWS2, KWS1
Known GenesDPY19L2P2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137589
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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