A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124288



Internal ID18923227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:152410137..152410197hg38UCSC Ensembl
Outerchr7:152107222..152107282hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3706n106
Supporting Variantsnssv3975592
SamplesKWS2
Known GenesKMT2C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124288
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer