A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977749



Internal ID19226211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:124723054..124731454hg38UCSC Ensembl
Outerchr6:125044200..125052600hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg388401
hg198401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124943
Supporting Variants
SamplesKWS2
Known GenesNKAIN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977749
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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