A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984827



Internal ID18862807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:173075772..173076272hg38UCSC Ensembl
Outerchr2:173940500..173941000hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126571
Supporting Variants
SamplesKWS1
Known GenesZAK
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984827
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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