A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967422



Internal ID18895761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1530664..1531264hg38UCSC Ensembl
Outerchr7:1570300..1570900hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112920
Supporting Variants
SamplesKWS2
Known GenesMAFK
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967422
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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