A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994149



Internal ID19212357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:16627825..16627925hg38UCSC Ensembl
Outerchr7:16667450..16667550hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142662
Supporting Variants
SamplesKWS1
Known GenesANKMY2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994149
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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