A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2446426



Internal ID17537663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44026765..44045112hg38UCSC Ensembl
Innerchr7:44066364..44084711hg19UCSC Ensembl
Innerchr7:44032889..44051236hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3818348
hg1918348
hg1818348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv966788
Supporting Variants
SamplesHGDP01307
Known GenesDBNL, LINC00957, RASA4CP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2446426
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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