A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126794



Internal ID19269532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:75237253..75237751hg38UCSC Ensembl
Outerchr7:74653000..74653500hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38499
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985067
SamplesKWS1
Known GenesGTF2IP1, LOC100093631
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126794
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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